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CLVS1 clavesin 1 [ Homo sapiens (human) ]

Gene ID: 157807, updated on 18-May-2023

Summary

Official Symbol
CLVS1provided by HGNC
Official Full Name
clavesin 1provided by HGNC
Primary source
HGNC:HGNC:23139
See related
Ensembl:ENSG00000177182 MIM:611292; AllianceGenome:HGNC:23139
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
CRALBPL; RLBP1L1; C6orf212L
Summary
Enables phosphatidylinositol-3,5-bisphosphate binding activity. Predicted to be involved in lysosome organization. Located in endosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in fat (RPKM 24.7), adrenal (RPKM 7.1) and 18 other tissues See more
Orthologs
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Genomic context

See CLVS1 in Genome Data Viewer
Location:
8q12.2-q12.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (60964848..61501629)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (61388616..61925370)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (62200529..62414188)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 10423 Neighboring gene hCG1816373-like Neighboring gene nuclear autoantigenic sperm protein pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 12445 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:61925128-61925715 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:61925759-61926468 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:61929973-61931172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:61964453-61964975 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:61989895-61990569 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:61990570-61991243 Neighboring gene meiotic recombination hotspot G Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:62033015-62033646 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:62075983-62076484 Neighboring gene nucleophosmin 1 pseudogene 6 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:62185690-62186311 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:62186312-62186932 Neighboring gene uncharacterized LOC105375870 Neighboring gene NANOG hESC enhancer GRCh37_chr8:62279520-62280036 Neighboring gene NANOG hESC enhancer GRCh37_chr8:62335334-62335851 Neighboring gene Sharpr-MPRA regulatory region 11405 Neighboring gene aspartate beta-hydroxylase Neighboring gene keratin 8 pseudogene 3 Neighboring gene RN7SK pseudogene 97

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
EBI GWAS Catalog
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ37248, MGC34646

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables phosphatidylinositol bisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables phosphatidylinositol-3,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in lysosome organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in lysosome organization ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
is_active_in clathrin-coated vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in clathrin-coated vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in early endosome membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endosome IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in trans-Golgi network ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in trans-Golgi network membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
clavesin-1
Names
clathrin vesicle-associated Sec14 protein 1
retinaldehyde-binding protein 1-like 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_173519.3NP_775790.1  clavesin-1

    See identical proteins and their annotated locations for NP_775790.1

    Status: VALIDATED

    Source sequence(s)
    AC090094, AK125153, BC042617, DA217517
    Consensus CDS
    CCDS6176.1
    UniProtKB/Swiss-Prot
    Q8IUQ0, Q8NB32
    Related
    ENSP00000325506.4, ENST00000325897.5
    Conserved Domains (2) summary
    smart01100
    Location:5197
    CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
    pfam00650
    Location:125274
    CRAL_TRIO; CRAL/TRIO domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    60964848..61501629
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447079.2XP_024302847.1  clavesin-1 isoform X1

    UniProtKB/Swiss-Prot
    Q8NB32
    Conserved Domains (2) summary
    smart01100
    Location:5197
    CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
    pfam00650
    Location:125274
    CRAL_TRIO; CRAL/TRIO domain
  2. XM_017013141.2XP_016868630.1  clavesin-1 isoform X1

    UniProtKB/Swiss-Prot
    Q8IUQ0, Q8NB32
    Conserved Domains (2) summary
    smart01100
    Location:5197
    CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
    pfam00650
    Location:125274
    CRAL_TRIO; CRAL/TRIO domain
  3. XM_017013142.3XP_016868631.1  clavesin-1 isoform X1

    UniProtKB/Swiss-Prot
    Q8IUQ0, Q8NB32
    Related
    ENSP00000428402.1, ENST00000519846.5
    Conserved Domains (2) summary
    smart01100
    Location:5197
    CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
    pfam00650
    Location:125274
    CRAL_TRIO; CRAL/TRIO domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    61388616..61925370
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359856.1XP_054215831.1  clavesin-1 isoform X1

    UniProtKB/Swiss-Prot
    Q8NB32
  2. XM_054359854.1XP_054215829.1  clavesin-1 isoform X1

    UniProtKB/Swiss-Prot
    Q8NB32
  3. XM_054359855.1XP_054215830.1  clavesin-1 isoform X1

    UniProtKB/Swiss-Prot
    Q8NB32