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Entry version 156 (12 Aug 2020)
Sequence version 1 (01 Mar 2001)
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Protein

Spermatogenesis-defective protein 39 homolog

Gene

VIPAS39

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Proposed to be involved in endosomal maturation implicating in part VPS33B. In epithelial cells, the VPS33B:VIPAS39 complex may play a role in the apical RAB11A-dependent recycling pathway and in the maintenance of the apical-basolateral polarity (PubMed:20190753). May play a role in lysosomal trafficking, probably via association with the core HOPS complex in a discrete population of endosomes; the functions seems to be indepenedent of VPS33B (PubMed:19109425). May play a role in vesicular trafficking during spermatogenesis (By similarity). May be involved in direct or indirect transcriptional regulation of E-cadherin (By similarity).By similarity2 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processDifferentiation, Protein transport, Spermatogenesis, Transcription, Transcription regulation, Transport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9H9C1

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Spermatogenesis-defective protein 39 homolog
Short name:
hSPE-39
Alternative name(s):
VPS33B-interacting protein in apical-basolateral polarity regulator
VPS33B-interacting protein in polarity and apical restriction
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:VIPAS39
Synonyms:C14orf133, SPE39, VIPAR
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000151445.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:20347, VIPAS39

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
613401, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H9C1

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoplasmic vesicle, Endosome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Arthrogryposis, renal dysfunction and cholestasis syndrome 2 (ARCS2)
The disease is caused by mutations affecting the gene represented in this entry. In liver, CEACAM5 and ABCB11 are mislocalized and E-cadherin expression is decreased.
Disease descriptionA multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase activity. Platelet dysfunction is common.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi213L → P: Disrupts endodsomal colocalization with VPS33B. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
63894

MalaCards human disease database

More...
MalaCardsi
VIPAS39
MIMi613404, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000151445

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
2697, Arthrogryposis-renal dysfunction-cholestasis syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA165479332

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9H9C1, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
VIPAS39

Domain mapping of disease mutations (DMDM)

More...
DMDMi
41016926

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000899351 – 493Spermatogenesis-defective protein 39 homologAdd BLAST493

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei21PhosphothreonineCombined sources1
Modified residuei117PhosphothreonineBy similarity1
Modified residuei121PhosphoserineCombined sources1
Modified residuei124PhosphoserineCombined sources1
Modified residuei130PhosphoserineCombined sources1
Modified residuei132PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9H9C1

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9H9C1

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9H9C1

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9H9C1

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9H9C1

PeptideAtlas

More...
PeptideAtlasi
Q9H9C1

PRoteomics IDEntifications database

More...
PRIDEi
Q9H9C1

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
81312 [Q9H9C1-1]
81313 [Q9H9C1-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9H9C1

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9H9C1

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000151445, Expressed in cortical plate and 223 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9H9C1, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9H9C1, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000151445, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with VPS33B (PubMed:19109425, PubMed:23901104). Associates with the homotypic fusion and vacuole protein sorting (HOPS) complex; impaired by VPS33B (PubMed:19109425, PubMed:23918659, PubMed:22753090). A possible interaction with VPS33A is reported conflictingly (PubMed:19109425, PubMed:23901104).

Interacts with RAB11A (PubMed:20190753).

3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
121974, 21 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q9H9C1

Protein interaction database and analysis system

More...
IntActi
Q9H9C1, 18 interactors

Molecular INTeraction database

More...
MINTi
Q9H9C1

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000452181

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9H9C1, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9H9C1

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the SPE39 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4677, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000013955

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_029487_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9H9C1

KEGG Orthology (KO)

More...
KOi
K23287

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9H9C1

TreeFam database of animal gene trees

More...
TreeFami
TF319640

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.150.780, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR040057, Spe-39
IPR006925, Vps16_C
IPR038132, Vps16_C_sf

The PANTHER Classification System

More...
PANTHERi
PTHR13364, PTHR13364, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF04840, Vps16_C, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H9C1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MNRTKGDEEE YWNSSKFKAF TFDDEDDELS QLKESKRAVN SLRDFVDDDD
60 70 80 90 100
DDDLERVSWS GEPVGSISWS IRETAGNSGS THEGREQLKS RNSFSSYAQL
110 120 130 140 150
PKPTSTYSLS SFFRGRTRPG SFQSLSDALS DTPAKSYAPE LGRPKGEYRD
160 170 180 190 200
YSNDWSPSDT VRRLRKGKVC SLERFRSLQD KLQLLEEAVS MHDGNVITAV
210 220 230 240 250
LIFLKRTLSK EILFRELEVR QVALRHLIHF LKEIGDQKLL LDLFRFLDRT
260 270 280 290 300
EELALSHYRE HLNIQDPDKR KEFLKTCVGL PFSAEDSAHI QDHYTLLERQ
310 320 330 340 350
IIIEANDRHL ESAGQTEIFR KHPRKASILN MPLVTTLFYS CFYHYTEAEG
360 370 380 390 400
TFSSPVNLKK TFKIPDKQYV LTALAARAKL RAWNDVDALF TTKNWLGYTK
410 420 430 440 450
KRAPIGFHRV VEILHKNNAP VQILQEYVNL VEDVDTKLNL ATKFKCHDVV
460 470 480 490
IDTYRDLKDR QQLLAYRSKV DKGSAEEEKI DALLSSSQIR WKN
Length:493
Mass (Da):57,005
Last modified:March 1, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iCF05C38EB922D192
GO
Isoform 2 (identifier: Q9H9C1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     67-115: Missing.

Show »
Length:444
Mass (Da):51,581
Checksum:i62293CF96A0DF07A
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V4K3G3V4K3_HUMAN
Spermatogenesis-defective protein 3...
VIPAS39
519Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V549G3V549_HUMAN
Spermatogenesis-defective protein 3...
VIPAS39
45Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAD09624 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence BAB14951 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti280L → S in BAB14237 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_04305567 – 115Missing in isoform 2. 1 PublicationAdd BLAST49

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK024661 mRNA Translation: BAB14951.1 Different initiation.
AK022769 mRNA Translation: BAB14237.1
AK022925 mRNA Translation: BAB14310.1
AK298354 mRNA Translation: BAG60598.1
AF111168 Genomic DNA Translation: AAD09624.1 Sequence problems.
BC015054 mRNA Translation: AAH15054.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS53905.1 [Q9H9C1-2]
CCDS9862.1 [Q9H9C1-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001180243.1, NM_001193314.1 [Q9H9C1-1]
NP_001180244.1, NM_001193315.1 [Q9H9C1-1]
NP_001180245.1, NM_001193316.1 [Q9H9C1-2]
NP_001180246.1, NM_001193317.1 [Q9H9C1-1]
NP_071350.2, NM_022067.3 [Q9H9C1-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000327028; ENSP00000313098; ENSG00000151445 [Q9H9C1-2]
ENST00000343765; ENSP00000339122; ENSG00000151445 [Q9H9C1-1]
ENST00000448935; ENSP00000404815; ENSG00000151445 [Q9H9C1-2]
ENST00000553888; ENSP00000452181; ENSG00000151445 [Q9H9C1-1]
ENST00000557658; ENSP00000452191; ENSG00000151445 [Q9H9C1-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
63894

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:63894

UCSC genome browser

More...
UCSCi
uc001xtt.3, human [Q9H9C1-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK024661 mRNA Translation: BAB14951.1 Different initiation.
AK022769 mRNA Translation: BAB14237.1
AK022925 mRNA Translation: BAB14310.1
AK298354 mRNA Translation: BAG60598.1
AF111168 Genomic DNA Translation: AAD09624.1 Sequence problems.
BC015054 mRNA Translation: AAH15054.1
CCDSiCCDS53905.1 [Q9H9C1-2]
CCDS9862.1 [Q9H9C1-1]
RefSeqiNP_001180243.1, NM_001193314.1 [Q9H9C1-1]
NP_001180244.1, NM_001193315.1 [Q9H9C1-1]
NP_001180245.1, NM_001193316.1 [Q9H9C1-2]
NP_001180246.1, NM_001193317.1 [Q9H9C1-1]
NP_071350.2, NM_022067.3 [Q9H9C1-1]

3D structure databases

SMRiQ9H9C1
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi121974, 21 interactors
CORUMiQ9H9C1
IntActiQ9H9C1, 18 interactors
MINTiQ9H9C1
STRINGi9606.ENSP00000452181

PTM databases

iPTMnetiQ9H9C1
PhosphoSitePlusiQ9H9C1

Polymorphism and mutation databases

BioMutaiVIPAS39
DMDMi41016926

Proteomic databases

EPDiQ9H9C1
jPOSTiQ9H9C1
MassIVEiQ9H9C1
MaxQBiQ9H9C1
PaxDbiQ9H9C1
PeptideAtlasiQ9H9C1
PRIDEiQ9H9C1
ProteomicsDBi81312 [Q9H9C1-1]
81313 [Q9H9C1-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
26048, 109 antibodies

The DNASU plasmid repository

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DNASUi
63894

Genome annotation databases

EnsembliENST00000327028; ENSP00000313098; ENSG00000151445 [Q9H9C1-2]
ENST00000343765; ENSP00000339122; ENSG00000151445 [Q9H9C1-1]
ENST00000448935; ENSP00000404815; ENSG00000151445 [Q9H9C1-2]
ENST00000553888; ENSP00000452181; ENSG00000151445 [Q9H9C1-1]
ENST00000557658; ENSP00000452191; ENSG00000151445 [Q9H9C1-1]
GeneIDi63894
KEGGihsa:63894
UCSCiuc001xtt.3, human [Q9H9C1-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
63894
DisGeNETi63894
EuPathDBiHostDB:ENSG00000151445.15

GeneCards: human genes, protein and diseases

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GeneCardsi
VIPAS39
HGNCiHGNC:20347, VIPAS39
HPAiENSG00000151445, Low tissue specificity
MalaCardsiVIPAS39
MIMi613401, gene
613404, phenotype
neXtProtiNX_Q9H9C1
OpenTargetsiENSG00000151445
Orphaneti2697, Arthrogryposis-renal dysfunction-cholestasis syndrome
PharmGKBiPA165479332

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG4677, Eukaryota
GeneTreeiENSGT00390000013955
HOGENOMiCLU_029487_0_0_1
InParanoidiQ9H9C1
KOiK23287
PhylomeDBiQ9H9C1
TreeFamiTF319640

Enzyme and pathway databases

PathwayCommonsiQ9H9C1

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
63894, 3 hits in 871 CRISPR screens

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
63894
PharosiQ9H9C1, Tbio

Protein Ontology

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PROi
PR:Q9H9C1
RNActiQ9H9C1, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000151445, Expressed in cortical plate and 223 other tissues
ExpressionAtlasiQ9H9C1, baseline and differential
GenevisibleiQ9H9C1, HS

Family and domain databases

Gene3Di1.10.150.780, 1 hit
InterProiView protein in InterPro
IPR040057, Spe-39
IPR006925, Vps16_C
IPR038132, Vps16_C_sf
PANTHERiPTHR13364, PTHR13364, 1 hit
PfamiView protein in Pfam
PF04840, Vps16_C, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSPE39_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9H9C1
Secondary accession number(s): B4DPI6
, O95434, Q9H7E1, Q9H9I9
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 16, 2004
Last sequence update: March 1, 2001
Last modified: August 12, 2020
This is version 156 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families
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