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NHSL1 NHS like 1 [ Homo sapiens (human) ]

Gene ID: 57224, updated on 7-Apr-2024

Summary

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Official Symbol
NHSL1provided by HGNC
Official Full Name
NHS like 1provided by HGNC
Primary source
HGNC:HGNC:21021
See related
Ensembl:ENSG00000135540 MIM:620171; AllianceGenome:HGNC:21021
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
C6orf63
Summary
Predicted to be involved in cell differentiation. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in small intestine (RPKM 4.4), colon (RPKM 3.6) and 17 other tissues See more
Orthologs
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Genomic context

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See NHSL1 in Genome Data Viewer
Location:
6q24.1
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (138422043..138693212, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (139610527..139881772, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (138743180..138893706, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:138698741-138699245 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:138724054-138724574 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17595 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:138725096-138725616 Neighboring gene small integral membrane protein 28 Neighboring gene MARCKS like 1 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:138751321-138751822 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:138751823-138752322 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:138762212-138762399 Neighboring gene heme binding protein 2 Neighboring gene microRNA 3145 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:138807227-138807846 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90625 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90641 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:138893284-138894040 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:138897819-138898319 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:138912362-138912862 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:138912863-138913363 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25159 Neighboring gene Sharpr-MPRA regulatory region 8531 Neighboring gene MTCH1 pseudogene 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:139012200-139013399 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17597 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17598 Neighboring gene collagen alpha-1(III) chain Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17599 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17600 Neighboring gene NHSL1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:139043918-139044568 Neighboring gene CCDC28A antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25160 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:139093957-139094631 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:139094632-139095305 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90660 Neighboring gene coiled-coil domain containing 28A

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. Nance-Horan Syndrome-like 1 protein negatively regulates Scar/WAVE-Arp2/3 activity and inhibits lamellipodia stability and cell migration. Law AL, et al. Nat Commun, 2021 Sep 28. PMID 34584076, Free PMC Article
  2. Proteogenomics Integrating Novel Junction Peptide Identification Strategy Discovers Three Novel Protein Isoforms of Human NHSL1 and EEF1B2. He C, et al. J Proteome Res, 2021 Dec 3. PMID 34420305
  3. Identification of the gene for Nance-Horan syndrome (NHS). Brooks SP, et al. J Med Genet, 2004 Oct. PMID 15466011, Free PMC Article
  4. PTPRA Phosphatase Regulates GDNF-Dependent RET Signaling and Inhibits the RET Mutant MEN2A Oncogenic Potential. Yadav L, et al. iScience, 2020 Feb 21. PMID 32062451, Free PMC Article
  5. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Feb 28. PMID 10718198

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Proteogenomics Integrating Novel Junction Peptide Identification Strategy Discovers Three Novel Protein Isoforms of Human NHSL1 and EEF1B2.
    Title: Proteogenomics Integrating Novel Junction Peptide Identification Strategy Discovers Three Novel Protein Isoforms of Human NHSL1 and EEF1B2.
  2. Nance-Horan Syndrome-like 1 protein negatively regulates Scar/WAVE-Arp2/3 activity and inhibits lamellipodia stability and cell migration.
    Title: Nance-Horan Syndrome-like 1 protein negatively regulates Scar/WAVE-Arp2/3 activity and inhibits lamellipodia stability and cell migration.
Submit: New GeneRIF Correction

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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1357

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
NHS-like protein 1

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_001144060.2 → NP_001137532.1  NHS-like protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001137532.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR, uses a distinct start codon, and includes an alternate in-frame exon, compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus and includes an alternate segment, compared to isoform 1.
    Source sequence(s)
    AL391669, AL591375
    Consensus CDS
    CCDS47487.1
    UniProtKB/Swiss-Prot
    Q5SYE7
    Related
    ENSP00000344672.5, ENST00000343505.10
    Conserved Domains (1) summary
    pfam15273
    Location:255 → 889
    NHS; NHS-like

  2. NM_020464.2 → NP_065197.1  NHS-like protein 1 isoform 1

    See identical proteins and their annotated locations for NP_065197.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL391669, AL591375
    Consensus CDS
    CCDS55063.1
    UniProtKB/Swiss-Prot
    Q3ZCS5, Q5SYE7, Q5SYE8, Q9P2J0
    Related
    ENSP00000394546.2, ENST00000427025.6
    Conserved Domains (1) summary
    pfam15273
    Location:259 → 893
    NHS; NHS-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
    138422043..138693212 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047419113.1 → XP_047275069.1  NHS-like protein 1 isoform X6

  2. XM_047419109.1 → XP_047275065.1  NHS-like protein 1 isoform X2

  3. XM_047419110.1 → XP_047275066.1  NHS-like protein 1 isoform X4

  4. XM_011535976.2 → XP_011534278.2  NHS-like protein 1 isoform X1

  5. XM_047419119.1 → XP_047275075.1  NHS-like protein 1 isoform X21

  6. XM_017011086.3 → XP_016866575.1  NHS-like protein 1 isoform X3

    Conserved Domains (1) summary
    pfam15273
    Location:321 → 955
    NHS; NHS-like

  7. XM_047419115.1 → XP_047275071.1  NHS-like protein 1 isoform X13

    UniProtKB/Swiss-Prot
    Q3ZCS5, Q5SYE7, Q5SYE8, Q9P2J0

  8. XM_047419112.1 → XP_047275068.1  NHS-like protein 1 isoform X5

  9. XM_011535967.4 → XP_011534269.1  NHS-like protein 1 isoform X3

    See identical proteins and their annotated locations for XP_011534269.1

    Conserved Domains (1) summary
    pfam15273
    Location:321 → 955
    NHS; NHS-like

  10. XM_047419111.1 → XP_047275067.1  NHS-like protein 1 isoform X5

  11. XM_011535966.4 → XP_011534268.1  NHS-like protein 1 isoform X3

    See identical proteins and their annotated locations for XP_011534268.1

    Conserved Domains (1) summary
    pfam15273
    Location:321 → 955
    NHS; NHS-like

  12. XM_047419116.1 → XP_047275072.1  NHS-like protein 1 isoform X18

  13. XM_047419114.1 → XP_047275070.1  NHS-like protein 1 isoform X11

  14. XM_017011087.1 → XP_016866576.1  NHS-like protein 1 isoform X7

  15. XM_047419118.1 → XP_047275074.1  NHS-like protein 1 isoform X20

  16. XM_017011089.2 → XP_016866578.1  NHS-like protein 1 isoform X17

  17. XM_011535972.3 → XP_011534274.1  NHS-like protein 1 isoform X14

    Conserved Domains (1) summary
    pfam15273
    Location:259 → 893
    NHS; NHS-like

  18. XM_011535973.3 → XP_011534275.1  NHS-like protein 1 isoform X15

    Conserved Domains (1) summary
    pfam15273
    Location:256 → 890
    NHS; NHS-like

  19. XM_011535969.3 → XP_011534271.1  NHS-like protein 1 isoform X8

    Conserved Domains (1) summary
    pfam15273
    Location:274 → 908
    NHS; NHS-like

  20. XM_047419117.1 → XP_047275073.1  NHS-like protein 1 isoform X19

  21. XM_011535970.3 → XP_011534272.1  NHS-like protein 1 isoform X9

    Conserved Domains (1) summary
    pfam15273
    Location:273 → 907
    NHS; NHS-like

  22. XM_011535974.4 → XP_011534276.1  NHS-like protein 1 isoform X16

    Conserved Domains (1) summary
    pfam15273
    Location:256 → 890
    NHS; NHS-like

  23. XM_011535971.3 → XP_011534273.1  NHS-like protein 1 isoform X12

    Conserved Domains (1) summary
    pfam15273
    Location:267 → 901
    NHS; NHS-like

  24. XM_017011088.2 → XP_016866577.1  NHS-like protein 1 isoform X10

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    139610527..139881772 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054356002.1 → XP_054211977.1  NHS-like protein 1 isoform X6

  2. XM_054355994.1 → XP_054211969.1  NHS-like protein 1 isoform X2

  3. XM_054355999.1 → XP_054211974.1  NHS-like protein 1 isoform X4

  4. XM_054355993.1 → XP_054211968.1  NHS-like protein 1 isoform X1

  5. XM_054355998.1 → XP_054211973.1  NHS-like protein 1 isoform X3

  6. XM_054356007.1 → XP_054211982.1  NHS-like protein 1 isoform X13

    UniProtKB/Swiss-Prot
    Q3ZCS5, Q5SYE7, Q5SYE8, Q9P2J0

  7. XM_054356001.1 → XP_054211976.1  NHS-like protein 1 isoform X5

  8. XM_054355997.1 → XP_054211972.1  NHS-like protein 1 isoform X3

  9. XM_054356000.1 → XP_054211975.1  NHS-like protein 1 isoform X5

  10. XM_054355996.1 → XP_054211971.1  NHS-like protein 1 isoform X3

  11. XM_054355995.1 → XP_054211970.1  NHS-like protein 1 isoform X3

  12. XM_054356014.1 → XP_054211989.1  NHS-like protein 1 isoform X18

  13. XM_054356006.1 → XP_054211981.1  NHS-like protein 1 isoform X11

  14. XM_054356003.1 → XP_054211978.1  NHS-like protein 1 isoform X7

  15. XM_054356008.1 → XP_054211983.1  NHS-like protein 1 isoform X14

  16. XM_054356013.1 → XP_054211988.1  NHS-like protein 1 isoform X17

  17. XM_054356016.1 → XP_054211991.1  NHS-like protein 1 isoform X20

  18. XM_054356004.1 → XP_054211979.1  NHS-like protein 1 isoform X8

  19. XM_054356009.1 → XP_054211984.1  NHS-like protein 1 isoform X15

  20. XM_054356015.1 → XP_054211990.1  NHS-like protein 1 isoform X19

  21. XM_054356005.1 → XP_054211980.1  NHS-like protein 1 isoform X9

  22. XM_054356010.1 → XP_054211985.1  NHS-like protein 1 isoform X16

  23. XM_054356012.1 → XP_054211987.1  NHS-like protein 1 isoform X22

  24. XM_054356011.1 → XP_054211986.1  NHS-like protein 1 isoform X22

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5SYE7.2 GenPept UniProtKB/Swiss-Prot:Q5SYE7

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