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CLVS1 clavesin 1 [ Homo sapiens (human) ]

Gene ID: 157807, updated on 26-May-2016
Official Symbol
CLVS1provided by HGNC
Official Full Name
clavesin 1provided by HGNC
Primary source
HGNC:HGNC:23139
See related
Ensembl:ENSG00000177182 HPRD:14581; MIM:611292; Vega:OTTHUMG00000164334
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
Orthologs
Location:
8q12.3
Exon count:
10
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 8 NC_000008.11 (60966438..61501645)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (62200514..62414204)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene collagen alpha-1(I) chain-like Neighboring gene hCG1816373-like Neighboring gene nuclear autoantigenic sperm protein pseudogene 1 Neighboring gene nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 6 Neighboring gene uncharacterized LOC105375870 Neighboring gene aspartate beta-hydroxylase Neighboring gene keratin 8 pseudogene 3 Neighboring gene microRNA 4470

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI 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.
NHGRI GWA Catalog
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
NHGRI GWA Catalog
  • Clathrin derived vesicle budding, organism-specific biosystem (from REACTOME)
    Clathrin derived vesicle budding, organism-specific biosystemThere at least two classes of clathrin coated vesicles in cells, one predominantly Golgi-associated, involved in budding from the trans-Golgi network and the other at the plasma membrane. Here the cl...
  • Lysosome Vesicle Biogenesis, organism-specific biosystem (from REACTOME)
    Lysosome Vesicle Biogenesis, organism-specific biosystemProteins that have been synthesized, processed and sorted eventually reach the final steps of the secretory pathway. This pathway is responsible not only for proteins that are secreted from the cell ...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
  • trans-Golgi Network Vesicle Budding, organism-specific biosystem (from REACTOME)
    trans-Golgi Network Vesicle Budding, organism-specific biosystemAfter passing through the Golgi complex, secretory cargo is packaged into post-Golgi transport intermediates (post-Golgi), which translocate plus-end directed along microtubules to the plasma membran...

Markers

Homology

Clone Names

  • FLJ37248, MGC34646

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidylinositol-3,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
transporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
lysosome organization ISS
Inferred from Sequence or Structural Similarity
more info
 
mitophagy in response to mitochondrial depolarization IGI
Inferred from Genetic Interaction
more info
PubMed 
transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
clathrin-coated endocytic vesicle membrane TAS
Traceable Author Statement
more info
 
clathrin-coated vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
early endosome membrane IEA
Inferred from Electronic Annotation
more info
 
endosome IDA
Inferred from Direct Assay
more info
PubMed 
trans-Golgi network ISS
Inferred from Sequence or Structural Similarity
more info
 
trans-Golgi network membrane TAS
Traceable Author Statement
more info
 
Preferred Names
clavesin-1
Names
retinaldehyde binding protein 1-like 1
retinaldehyde-binding protein 1-like 1

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_173519.2NP_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
    Related
    ENSP00000325506, OTTHUMP00000226484, ENST00000325897, OTTHUMT00000378326
    Conserved Domains (2) summary
    cd00170
    Location:128274
    SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
    pfam03765
    Location:5197
    CRAL_TRIO_N; CRAL/TRIO, N-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p2 Primary Assembly

    Range
    60966438..61501645
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517472.1XP_011515774.1  

    See identical proteins and their annotated locations for XP_011515774.1

    UniProtKB/Swiss-Prot
    Q8IUQ0
    Conserved Domains (2) summary
    cd00170
    Location:128274
    SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
    pfam03765
    Location:5197
    CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
  2. XM_011517470.1XP_011515772.1  

    See identical proteins and their annotated locations for XP_011515772.1

    Conserved Domains (2) summary
    cd00170
    Location:128285
    SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
    pfam03765
    Location:5197
    CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
  3. XM_011517471.1XP_011515773.1  

    See identical proteins and their annotated locations for XP_011515773.1

    Conserved Domains (2) summary
    cd00170
    Location:128285
    SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
    pfam03765
    Location:5197
    CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
  4. XM_011517473.1XP_011515775.1  

    Conserved Domains (2) summary
    cd00170
    Location:106215
    SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
    pfam03765
    Location:2975
    CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
  5. XM_011517474.1XP_011515776.1  

    Conserved Domains (2) summary
    cd00170
    Location:106188
    SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
    pfam03765
    Location:2975
    CRAL_TRIO_N; CRAL/TRIO, N-terminal domain

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 Alternate CHM1_1.1

    Range
    62252500..62466191
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)