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CLBA1 clathrin binding box of aftiphilin containing 1 [ Homo sapiens (human) ]

Gene ID: 122616, updated on 2-Nov-2024

Summary

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Official Symbol
CLBA1provided by HGNC
Official Full Name
clathrin binding box of aftiphilin containing 1provided by HGNC
Primary source
HGNC:HGNC:20126
See related
Ensembl:ENSG00000140104 AllianceGenome:HGNC:20126
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C14orf79
Summary
Predicted to enable clathrin binding activity. Predicted to be involved in intracellular transport. Predicted to be part of AP-1 adaptor complex. Predicted to be active in trans-Golgi network membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in testis (RPKM 5.0), thyroid (RPKM 3.6) and 25 other tissues See more
Orthologs
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Genomic context

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See CLBA1 in Genome Data Viewer
Location:
14q32.33
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (104985788..105001274)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (99230266..99245748)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (105452125..105461853)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105332635-105333610 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6205 Neighboring gene microRNA 12121 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:105342668-105342853 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105343537-105344095 Neighboring gene centrosomal protein 170B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105347753-105348661 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105348662-105349569 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105372467-105373090 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:105381788-105382013 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9125 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_33759 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105391541-105392050 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105398641-105399539 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105405832-105406332 Neighboring gene phospholipase D family member 4 Neighboring gene AHNAK nucleoprotein 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_33767 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105433703-105434436 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105435172-105435905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9126 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6207 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6209 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105485485-105486145 Neighboring gene H3K27ac hESC enhancers GRCh37_chr14:105486597-105487112 and GRCh37_chr14:105487627-105488140 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9127 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9128 Neighboring gene Sharpr-MPRA regulatory region 5751 Neighboring gene cell division cycle associated 4 Neighboring gene uncharacterized LOC124903398 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105499947-105500448 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6213 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9129 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105521947-105522722 Neighboring gene G protein-coupled receptor 132

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 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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GeneRIFs: Gene References Into Functions

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables clathrin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in intracellular transport IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of AP-1 adaptor complex IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in trans-Golgi network membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
uncharacterized protein CLBA1
Names
clathrin-binding box of aftiphilin-containing protein 1
uncharacterized protein C14orf79

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.

mRNA and Protein(s)

  1. NM_001364170.1 → NP_001351099.1  uncharacterized protein CLBA1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL512802
    Conserved Domains (1) summary
    pfam15045
    Location:193 → 272
    Clathrin_bdg; Clathrin-binding box of Aftiphilin, vesicle trafficking

  2. NM_174891.4 → NP_777551.2  uncharacterized protein CLBA1 isoform 1

    See identical proteins and their annotated locations for NP_777551.2

    Status: VALIDATED

    Source sequence(s)
    AF038188, AK057249, AL512802
    Consensus CDS
    CCDS42000.1
    UniProtKB/Swiss-Prot
    B2RPK9, Q96F83, Q9BTP4
    Related
    ENSP00000450114.1, ENST00000547315.6
    Conserved Domains (1) summary
    pfam15045
    Location:193 → 272
    Clathrin_bdg; Clathrin-binding box of Aftiphilin, vesicle trafficking

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    104985788..105001274
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005267318.5 → XP_005267375.1  uncharacterized protein CLBA1 isoform X1

    Conserved Domains (1) summary
    pfam15045
    Location:193 → 272
    Clathrin_bdg; Clathrin-binding box of Aftiphilin, vesicle trafficking

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    99230266..99245748
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054375346.1 → XP_054231321.1  uncharacterized protein CLBA1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96F83.2 GenPept UniProtKB/Swiss-Prot:Q96F83

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