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KIAA0319 KIAA0319 [ Homo sapiens (human) ]

Gene ID: 9856, updated on 5-Mar-2024

Summary

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Official Symbol
KIAA0319provided by HGNC
Official Full Name
KIAA0319provided by HGNC
Primary source
HGNC:HGNC:21580
See related
Ensembl:ENSG00000137261 MIM:609269; AllianceGenome:HGNC:21580
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DYX2; NMIG; DYLX2
Summary
This gene encodes a transmembrane protein that contains a large extracellular domain with multiple polycystic kidney disease (PKD) domains. The encoded protein may play a role in the development of the cerebral cortex by regulating neuronal migration and cell adhesion. Single nucleotide polymorphisms in this gene are associated with dyslexia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Expression
Biased expression in brain (RPKM 5.0), testis (RPKM 0.6) and 3 other tissues See more
Orthologs
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Genomic context

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See KIAA0319 in Genome Data Viewer
Location:
6p22.3
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (24540141..24646191, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (24414072..24516155, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (24544335..24646419, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene magnesium transporter MRS2 Neighboring gene glycosylphosphatidylinositol specific phospholipase D1 Neighboring gene MPRA-validated peak5733 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16989 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16990 Neighboring gene aldehyde dehydrogenase 5 family member A1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24153 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16991 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16992 Neighboring gene uncharacterized LOC124901277 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:24538795-24539994 Neighboring gene NANOG hESC enhancer GRCh37_chr6:24547459-24547981 Neighboring gene MPRA-validated peak5735 silencer Neighboring gene keratin 8 pseudogene 43 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16993 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:24666173-24666845 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:24666846-24667517 Neighboring gene uncharacterized LOC124901279 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:24682160-24682927 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:24682928-24683696 Neighboring gene tyrosyl-DNA phosphodiesterase 2 Neighboring gene acyl-CoA thioesterase 13

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Cumulative genetic score of KIAA0319 affects reading ability in Chinese children: moderation by parental education and mediation by rapid automatized naming. Zhao J, et al. Behav Brain Funct, 2023 Jun 1. PMID 37259151, Free PMC Article
  2. KIAA0319 influences cilia length, cell migration and mechanical cell-substrate interaction. Diaz R, et al. Sci Rep, 2022 Jan 14. PMID 35031635, Free PMC Article
  3. Association between KIAA0319 SNPs and risk of dyslexia: a meta-analysis. Deng KG, et al. J Genet, 2019 Jun. PMID 31204720
  4. Adeno-associated virus 2 bound to its cellular receptor AAVR. Zhang R, et al. Nat Microbiol, 2019 Apr. PMID 30742069
  5. KIAA0319 promoter DNA methylation predicts dichotic listening performance in forced-attention conditions. Schmitz J, et al. Behav Brain Res, 2018 Jan 30. PMID 28958754

See all (60) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Cumulative genetic score of KIAA0319 affects reading ability in Chinese children: moderation by parental education and mediation by rapid automatized naming.
    Title: Cumulative genetic score of KIAA0319 affects reading ability in Chinese children: moderation by parental education and mediation by rapid automatized naming.
  2. KIAA0319 influences cilia length, cell migration and mechanical cell-substrate interaction.
    Title: KIAA0319 influences cilia length, cell migration and mechanical cell-substrate interaction.
  3. Results indicate that the polymorphisms rs4504469, rs2038137, rs2179515, rs3212236, rs6935076, rs9461045, rs2143340 and rs761100 have no association between the polymorphisms and dyslexia risk [Meta-analysis].
    Title: Association between KIAA0319 SNPs and risk of dyslexia: a meta-analysis.
  4. Residues in strands B and E, and the BC loop of AAVR PKD2 interact directly with the AAV2 capsid.
    Title: Adeno-associated virus 2 bound to its cellular receptor AAVR.
  5. By suggesting the presence of common biological processes underlying reading (dis)ability, these findings represent initial support for a generalist effect of the non-additive interdependence between READ1 and the KIAA0319 risk haplotype and can help in clinically assessing the individual risk for Developmental dyslexia.
    Title: The role of READ1 and KIAA0319 genetic variations in developmental dyslexia: testing main and interactive effects.
  6. These findings suggest that DNA methylation patterns in the KIAA0319 promoter region might be associated with cognitive control processes that are necessary to perform well in the forced-attention conditions.
    Title: KIAA0319 promoter DNA methylation predicts dichotic listening performance in forced-attention conditions.
  7. The study corroborates the importance of rs2038137-KIAA0319, and rs6935076-KIAA0319 in the aetiology of dyslexia. The relevance of rs2038137-KIAA0319, and rs6935076-KIAA0319 was further supported by the meta-analysis.
    Title: Association, characterisation and meta-analysis of SNPs linked to general reading ability in a German dyslexia case-control cohort.
  8. a meta-analysis of association studies involving KIAA0319 polymorphisms and Developmental Dyslexia risk, is reported.
    Title: Opposite Associations between Individual KIAA0319 Polymorphisms and Developmental Dyslexia Risk across Populations: A Stratified Meta-Analysis by the Study Population.
  9. Missense variant in DYX2 gene is associated with reading disability.
    Title: Enrichment of putatively damaging rare variants in the DYX2 locus and the reading-related genes CCDC136 and FLNC.
  10. Two SNPs in the KIAA0319 gene were nominally associated with rapid naming, and these associations were stable across different ages in longitudinal data set from the Dutch Dyslexia Program.
    Title: Association analysis of dyslexia candidate genes in a Dutch longitudinal sample.
Submit: New GeneRIF Correction See all GeneRIFs (43)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC176717

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in multicellular organismal response to stress IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within negative regulation of axon extension IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within negative regulation of axon extension involved in regeneration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of dendrite development IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in neuron migration IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in neuron migration IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within positive regulation of SMAD protein signal transduction IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within positive regulation of SMAD protein signal transduction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in response to auditory stimulus IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in clathrin-coated endocytic vesicle membrane TAS
Traceable Author Statement
more info
  
is_active_in cytoplasmic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in early endosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in early endosome membrane IEA
Inferred from Electronic Annotation
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
dyslexia-associated protein KIAA0319
Names
dyslexia susceptibility 2
neuronal migration

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016206.2 RefSeqGene

    Range
    5000..107084
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001168374.2 → NP_001161846.1  dyslexia-associated protein KIAA0319 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate internal exon and uses an alternate start codon, compared to variant 1. The encoded isoform (b) is shorter and has a distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AK296426, AL031230, AL031775, AL512385, BC152460
    Consensus CDS
    CCDS54970.1
    UniProtKB/Swiss-Prot
    Q5VV43
    Related
    ENSP00000442403.1, ENST00000535378.5
    Conserved Domains (3) summary
    smart00765
    Location:11 → 93
    MANEC; The MANEC domain, formerly called MANSC
    smart00089
    Location:426 → 512
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam05466
    Location:198 → 332
    BASP1; Brain acid soluble protein 1 (BASP1 protein)

  2. NM_001168375.2 → NP_001161847.1  dyslexia-associated protein KIAA0319 isoform a precursor

    See identical proteins and their annotated locations for NP_001161847.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 7 all encode the same isoform (a).
    Source sequence(s)
    AK296310, AL031230, AL031775, AL512385, DA316925, DA808234
    Consensus CDS
    CCDS34348.1
    UniProtKB/Swiss-Prot
    A7MD37, B2RTU7, B4DHA7, B4DK75, B7ZML3, F5H123, Q5VV43, Q9UJC8, Q9Y4G7
    Conserved Domains (4) summary
    smart00765
    Location:20 → 102
    MANEC; The MANEC domain, formerly called MANSC
    smart00089
    Location:435 → 521
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam02010
    Location:546 → 826
    REJ; REJ domain
    pfam08604
    Location:167 → 329
    Nup153; Nucleoporin Nup153-like

  3. NM_001168376.2 → NP_001161848.1  dyslexia-associated protein KIAA0319 isoform c

    See identical proteins and their annotated locations for NP_001161848.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks an exon and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (c) has a shorter N-terminus, compared to isoform a. Variants 4 and 10 both encode the same isoform (c).
    Source sequence(s)
    AK295008, AL031230, AL031775, AL512385, DA316925, DA808234
    Consensus CDS
    CCDS54969.1
    UniProtKB/Swiss-Prot
    Q5VV43
    Related
    ENSP00000401086.2, ENST00000430948.6
    Conserved Domains (4) summary
    smart00089
    Location:390 → 476
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam02010
    Location:501 → 781
    REJ; REJ domain
    cl06508
    Location:4 → 57
    MANEC; MANEC domain
    cl25756
    Location:119 → 296
    BASP1; Brain acid soluble protein 1 (BASP1 protein)

  4. NM_001168377.2 → NP_001161849.1  dyslexia-associated protein KIAA0319 isoform d precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks two consecutive exons in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (d) is shorter than isoform a.
    Source sequence(s)
    AK295008, AL031230, AL031775, AL512385, BC144628, BC152460
    Consensus CDS
    CCDS54971.1
    UniProtKB/Swiss-Prot
    Q5VV43
    Related
    ENSP00000439700.1, ENST00000537886.5
    Conserved Domains (3) summary
    smart00765
    Location:20 → 102
    MANEC; The MANEC domain, formerly called MANSC
    smart00089
    Location:435 → 521
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam05466
    Location:207 → 341
    BASP1; Brain acid soluble protein 1 (BASP1 protein)

  5. NM_001252328.2 → NP_001239257.1  dyslexia-associated protein KIAA0319 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, lacks a large portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (e) has a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AK310289, AL031230
    Consensus CDS
    CCDS75409.1
    UniProtKB/TrEMBL
    A0A087X0U9
    Related
    ENSP00000483665.1, ENST00000616673.4
    Conserved Domains (1) summary
    smart00089
    Location:37 → 123
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins

  6. NM_001350403.2 → NP_001337332.1  dyslexia-associated protein KIAA0319 isoform a precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variants 1 and 2, encodes isoform a.
    Source sequence(s)
    AL031230, AL031775, AL512385
    Consensus CDS
    CCDS34348.1
    UniProtKB/Swiss-Prot
    A7MD37, B2RTU7, B4DHA7, B4DK75, B7ZML3, F5H123, Q5VV43, Q9UJC8, Q9Y4G7
    Conserved Domains (4) summary
    smart00765
    Location:20 → 102
    MANEC; The MANEC domain, formerly called MANSC
    smart00089
    Location:435 → 521
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam02010
    Location:546 → 826
    REJ; REJ domain
    pfam08604
    Location:167 → 329
    Nup153; Nucleoporin Nup153-like

  7. NM_001350404.2 → NP_001337333.1  dyslexia-associated protein KIAA0319 isoform f

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) encodes isoform f.
    Source sequence(s)
    AL031230, AL031775, AL512385
    Conserved Domains (4) summary
    smart00765
    Location:14 → 96
    MANEC; The MANEC domain, formerly called MANSC
    smart00089
    Location:429 → 515
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam02010
    Location:540 → 820
    REJ; REJ domain
    cl25756
    Location:158 → 335
    BASP1; Brain acid soluble protein 1 (BASP1 protein)

  8. NM_001350405.2 → NP_001337334.1  dyslexia-associated protein KIAA0319 isoform g precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) encodes isoform g.
    Source sequence(s)
    AL031230, AL031775, AL512385
    Conserved Domains (4) summary
    smart00765
    Location:20 → 102
    MANEC; The MANEC domain, formerly called MANSC
    smart00089
    Location:402 → 488
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam02010
    Location:513 → 793
    REJ; REJ domain
    pfam08604
    Location:167 → 329
    Nup153; Nucleoporin Nup153-like

  9. NM_001350406.2 → NP_001337335.1  dyslexia-associated protein KIAA0319 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10), as well as variant 4, encodes isoform c.
    Source sequence(s)
    AL031230, AL031775, AL512385
    Consensus CDS
    CCDS54969.1
    Conserved Domains (4) summary
    smart00089
    Location:390 → 476
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam02010
    Location:501 → 781
    REJ; REJ domain
    cl06508
    Location:4 → 57
    MANEC; MANEC domain
    cl25756
    Location:119 → 296
    BASP1; Brain acid soluble protein 1 (BASP1 protein)

  10. NM_001350407.2 → NP_001337336.1  dyslexia-associated protein KIAA0319 isoform h precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11), as well as variant 12, encodes isoform h.
    Source sequence(s)
    AL031230, AL031775, AL512385
    Conserved Domains (4) summary
    smart00765
    Location:20 → 102
    MANEC; The MANEC domain, formerly called MANSC
    smart00089
    Location:435 → 521
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam02010
    Location:546 → 826
    REJ; REJ domain
    cl25756
    Location:164 → 341
    BASP1; Brain acid soluble protein 1 (BASP1 protein)

  11. NM_001350408.2 → NP_001337337.1  dyslexia-associated protein KIAA0319 isoform h precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12), as well as variant 11, encodes isoform h.
    Source sequence(s)
    AL031230, AL031775, AL512385
    Conserved Domains (4) summary
    smart00765
    Location:20 → 102
    MANEC; The MANEC domain, formerly called MANSC
    smart00089
    Location:435 → 521
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam02010
    Location:546 → 826
    REJ; REJ domain
    cl25756
    Location:164 → 341
    BASP1; Brain acid soluble protein 1 (BASP1 protein)

  12. NM_001350409.2 → NP_001337338.1  dyslexia-associated protein KIAA0319 isoform i

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13), as well as variant 14, encodes isoform i.
    Source sequence(s)
    AL031230, AL031775, AL512385
    Conserved Domains (3) summary
    smart00089
    Location:283 → 369
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam02010
    Location:394 → 674
    REJ; REJ domain
    cl25756
    Location:12 → 189
    BASP1; Brain acid soluble protein 1 (BASP1 protein)

  13. NM_001350410.2 → NP_001337339.1  dyslexia-associated protein KIAA0319 isoform i

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14), as well as variant 13, encodes isoform i.
    Source sequence(s)
    AL031230, AL031775, AL512385
    Conserved Domains (3) summary
    smart00089
    Location:283 → 369
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam02010
    Location:394 → 674
    REJ; REJ domain
    cl25756
    Location:12 → 189
    BASP1; Brain acid soluble protein 1 (BASP1 protein)

  14. NM_014809.4 → NP_055624.2  dyslexia-associated protein KIAA0319 isoform a precursor

    See identical proteins and their annotated locations for NP_055624.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1, 2, and 7 all encode the same isoform (a).
    Source sequence(s)
    AB002317, AL031230, AL031775, AL512385
    Consensus CDS
    CCDS34348.1
    UniProtKB/Swiss-Prot
    A7MD37, B2RTU7, B4DHA7, B4DK75, B7ZML3, F5H123, Q5VV43, Q9UJC8, Q9Y4G7
    Related
    ENSP00000367459.3, ENST00000378214.8
    Conserved Domains (4) summary
    smart00765
    Location:20 → 102
    MANEC; The MANEC domain, formerly called MANSC
    smart00089
    Location:435 → 521
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam02010
    Location:546 → 826
    REJ; REJ domain
    pfam08604
    Location:167 → 329
    Nup153; Nucleoporin Nup153-like

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    24540141..24646191 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011546.3 → XP_016867035.1  dyslexia-associated protein KIAA0319 isoform X4

  2. XM_047419602.1 → XP_047275558.1  dyslexia-associated protein KIAA0319 isoform X2

  3. XM_047419604.1 → XP_047275560.1  dyslexia-associated protein KIAA0319 isoform X6

  4. XM_017011550.2 → XP_016867039.1  dyslexia-associated protein KIAA0319 isoform X5

    Conserved Domains (4) summary
    smart00765
    Location:20 → 102
    MANEC; The MANEC domain, formerly called MANSC
    smart00089
    Location:435 → 521
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam02010
    Location:546 → 826
    REJ; REJ domain
    cl25756
    Location:164 → 341
    BASP1; Brain acid soluble protein 1 (BASP1 protein)

  5. XM_047419603.1 → XP_047275559.1  dyslexia-associated protein KIAA0319 isoform X3

  6. XM_017011544.2 → XP_016867033.1  dyslexia-associated protein KIAA0319 isoform X3

    Conserved Domains (4) summary
    smart00765
    Location:20 → 102
    MANEC; The MANEC domain, formerly called MANSC
    smart00089
    Location:402 → 488
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam02010
    Location:513 → 793
    REJ; REJ domain
    pfam08604
    Location:167 → 329
    Nup153; Nucleoporin Nup153-like

  7. XM_017011541.2 → XP_016867030.1  dyslexia-associated protein KIAA0319 isoform X1

    UniProtKB/Swiss-Prot
    Q5VV43
    Conserved Domains (3) summary
    smart00765
    Location:11 → 93
    MANEC; The MANEC domain, formerly called MANSC
    smart00089
    Location:426 → 512
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam05466
    Location:198 → 332
    BASP1; Brain acid soluble protein 1 (BASP1 protein)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    24414072..24516155 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5VV43.1 GenPept UniProtKB/Swiss-Prot:Q5VV43

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