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Entry version 115 (08 May 2019)
Sequence version 1 (22 Aug 2006)
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Protein

Hepatocyte cell adhesion molecule

Gene

HEPACAM

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

Involved in regulating cell motility and cell-matrix interactions. May inhibit cell growth through suppression of cell proliferation.2 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 - 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 processCell adhesion, Cell cycle, Growth arrest, Growth regulation

Protein family/group databases

Transport Classification Database

More...
TCDBi
8.A.23.1.5 the basigin (basigin) family

<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_and_taxonomy_section">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:
Hepatocyte cell adhesion molecule
Short name:
Protein hepaCAM
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:HEPACAMImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 11

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26361 HEPACAM

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611642 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q14CZ8

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini34 – 240ExtracellularSequence analysisAdd BLAST207
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei241 – 261HelicalSequence analysisAdd BLAST21
Topological domaini262 – 416CytoplasmicSequence analysisAdd BLAST155

Keywords - Cellular componenti

Cytoplasm, Membrane

<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

Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurodegenerative disorder characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, and cognitive decline of variable severity. The brain appears swollen on magnetic resonance imaging with white-matter abnormalities and subcortical cysts, in all stages of the disease.
See also OMIM:613925
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06584923L → H in MLC2A. 1 Publication1
Natural variantiVAR_06585292R → Q in MLC2A. 1 PublicationCorresponds to variant dbSNP:rs387907050EnsemblClinVar.1
Natural variantiVAR_06585498R → C in MLC2A. 1 PublicationCorresponds to variant dbSNP:rs387907052EnsemblClinVar.1
Natural variantiVAR_065857148P → S in MLC2A. 1 Publication1
Natural variantiVAR_065858196S → Y in MLC2A. 1 PublicationCorresponds to variant dbSNP:rs387907049EnsemblClinVar.1
Natural variantiVAR_065859211D → N in MLC2A. 1 PublicationCorresponds to variant dbSNP:rs387907051EnsemblClinVar.1
Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurodegenerative disorder characterized by infantile-onset of macrocephaly and mildly delayed motor development associated with white-matter abnormalities on brain magnetic resonance imaging. The phenotype is milder that MLC2A, with better preserved cerebellar white matter and no subcortical cysts outside the temporal region. On follow-up, patients show normal or almost normal motor function. Some patients have normal intelligence, whereas others have a significant cognitive deficiency.
See also OMIM:613926
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06585089G → D in MLC2B. 1 PublicationCorresponds to variant dbSNP:rs387907054EnsemblClinVar.1
Natural variantiVAR_06585189G → S in MLC2B. 1 PublicationCorresponds to variant dbSNP:rs387907053EnsemblClinVar.1
Natural variantiVAR_06585392R → W in MLC2B. 1 PublicationCorresponds to variant dbSNP:rs387907055EnsemblClinVar.1
Natural variantiVAR_065855128D → N in MLC2B. 1 Publication1
Natural variantiVAR_065856135Missing in MLC2B. 1 Publication1
Natural variantiVAR_065860288R → C in MLC2B. 1 PublicationCorresponds to variant dbSNP:rs149782549EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
220296

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
HEPACAM

MalaCards human disease database

More...
MalaCardsi
HEPACAM
MIMi613925 phenotype
613926 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000165478

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

More...
Orphaneti
210548 Macrocephaly-intellectual disability-autism syndrome
2478 Megalencephalic leukoencephalopathy with subcortical cysts

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162390830

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HEPACAM

Domain mapping of disease mutations (DMDM)

More...
DMDMi
121945515

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 33Sequence analysisAdd BLAST33
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000029877734 – 416Hepatocyte cell adhesion moleculeSequence analysisAdd BLAST383

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi35N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi138N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi167N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi168 ↔ 217PROSITE-ProRule annotation
Glycosylationi189N-linked (GlcNAc...) asparagineSequence analysis1
<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 residuei278PhosphoserineBy similarity1
Modified residuei350PhosphoserineBy similarity1
Modified residuei377PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-glycosylated.2 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q14CZ8

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q14CZ8

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

More...
PaxDbi
Q14CZ8

PeptideAtlas

More...
PeptideAtlasi
Q14CZ8

PRoteomics IDEntifications database

More...
PRIDEi
Q14CZ8

ProteomicsDB human proteome resource

More...
ProteomicsDBi
60339
60340 [Q14CZ8-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q14CZ8

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

More...
PhosphoSitePlusi
Q14CZ8

<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

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Down-regulated in 20 out of 23 of hepatocellular carcinoma (HCC) samples and is undetectable in 5 HCC cell lines tested.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000165478 Expressed in 109 organ(s), highest expression level in substantia nigra

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q14CZ8 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB025486
HPA017613

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer. Dimer formation occurs predominantly through cis interactions on the cell surface. Part of a complex containing MLC1, TRPV4, AQP4 and ATP1B1.2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
128639, 1 interactor

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q14CZ8

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000298251

<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
Q14CZ8

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini34 – 142Ig-like V-typeSequence analysisAdd BLAST109
Domaini148 – 234Ig-like C2-typeSequence analysisAdd BLAST87

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The cytoplasmic domain plays an important role in regulation of cell-matrix adhesion and cell motility.1 Publication

Keywords - Domaini

Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IFBM Eukaryota
ENOG410ZWCW LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000182716

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000060194

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q14CZ8

KEGG Orthology (KO)

More...
KOi
K23116

Identification of Orthologs from Complete Genome Data

More...
OMAi
PIKITVY

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q14CZ8

TreeFam database of animal gene trees

More...
TreeFami
TF331199

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.60.40.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003599 Ig_sub
IPR003598 Ig_sub2
IPR013106 Ig_V-set

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07686 V-set, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00409 IG, 2 hits
SM00408 IGc2, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48726 SSF48726, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50835 IG_LIKE, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 11 Publication (identifier: Q14CZ8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MKRERGALSR ASRALRLAPF VYLLLIQTDP LEGVNITSPV RLIHGTVGKS
60 70 80 90 100
ALLSVQYSST SSDRPVVKWQ LKRDKPVTVV QSIGTEVIGT LRPDYRDRIR
110 120 130 140 150
LFENGSLLLS DLQLADEGTY EVEISITDDT FTGEKTINLT VDVPISRPQV
160 170 180 190 200
LVASTTVLEL SEAFTLNCSH ENGTKPSYTW LKDGKPLLND SRMLLSPDQK
210 220 230 240 250
VLTITRVLME DDDLYSCMVE NPISQGRSLP VKITVYRRSS LYIILSTGGI
260 270 280 290 300
FLLVTLVTVC ACWKPSKRKQ KKLEKQNSLE YMDQNDDRLK PEADTLPRSG
310 320 330 340 350
EQERKNPMAL YILKDKDSPE TEENPAPEPR SATEPGPPGY SVSPAVPGRS
360 370 380 390 400
PGLPIRSARR YPRSPARSPA TGRTHSSPPR APSSPGRSRS ASRTLRTAGV
410
HIIREQDEAG PVEISA
Length:416
Mass (Da):46,026
Last modified:August 22, 2006 - 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:i3CB5111207135F3C
GO
Isoform 21 Publication (identifier: Q14CZ8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     293-367: ADTLPRSGEQ...ARRYPRSPAR → GELPATQSPI...PSTLSVSVHE
     368-416: Missing.

Note: No experimental confirmation available.Curated
Show »
Length:367
Mass (Da):40,564
Checksum:i375DEF58F3C9725A
GO

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 conflicti2K → E in AAQ93018 (PubMed:15885354).Curated1
Sequence conflicti95Y → S in BAC85486 (PubMed:14702039).Curated1
Sequence conflicti284Q → R in AAQ93018 (PubMed:15885354).Curated1
Sequence conflicti293Missing in CAD39081 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06584923L → H in MLC2A. 1 Publication1
Natural variantiVAR_06585089G → D in MLC2B. 1 PublicationCorresponds to variant dbSNP:rs387907054EnsemblClinVar.1
Natural variantiVAR_06585189G → S in MLC2B. 1 PublicationCorresponds to variant dbSNP:rs387907053EnsemblClinVar.1
Natural variantiVAR_06585292R → Q in MLC2A. 1 PublicationCorresponds to variant dbSNP:rs387907050EnsemblClinVar.1
Natural variantiVAR_06585392R → W in MLC2B. 1 PublicationCorresponds to variant dbSNP:rs387907055EnsemblClinVar.1
Natural variantiVAR_06585498R → C in MLC2A. 1 PublicationCorresponds to variant dbSNP:rs387907052EnsemblClinVar.1
Natural variantiVAR_065855128D → N in MLC2B. 1 Publication1
Natural variantiVAR_065856135Missing in MLC2B. 1 Publication1
Natural variantiVAR_065857148P → S in MLC2A. 1 Publication1
Natural variantiVAR_065858196S → Y in MLC2A. 1 PublicationCorresponds to variant dbSNP:rs387907049EnsemblClinVar.1
Natural variantiVAR_065859211D → N in MLC2A. 1 PublicationCorresponds to variant dbSNP:rs387907051EnsemblClinVar.1
Natural variantiVAR_034731218M → V2 PublicationsCorresponds to variant dbSNP:rs10790715EnsemblClinVar.1
Natural variantiVAR_065860288R → C in MLC2B. 1 PublicationCorresponds to variant dbSNP:rs149782549EnsemblClinVar.1

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_052497293 – 367ADTLP…RSPAR → GELPATQSPIPSTIRSVGCW EKAELGDKENSSAGTLPSDL GASKGKEPEPASLASSHSLP RRHAMPSTLSVSVHE in isoform 2. 1 PublicationAdd BLAST75
Alternative sequenceiVSP_052498368 – 416Missing in isoform 2. 1 PublicationAdd BLAST49

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY047587 mRNA Translation: AAQ93018.1
AK098396 mRNA Translation: BAC05297.1
AK122595 mRNA Translation: BAC85486.1
BC104831 mRNA Translation: AAI04832.1
BC113562 mRNA Translation: AAI13563.1
AL834419 mRNA Translation: CAD39081.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS8456.1 [Q14CZ8-1]

NCBI Reference Sequences

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RefSeqi
NP_689935.2, NM_152722.4 [Q14CZ8-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000298251; ENSP00000298251; ENSG00000165478 [Q14CZ8-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
220296

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:220296

UCSC genome browser

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UCSCi
uc001qbk.4 human [Q14CZ8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AY047587 mRNA Translation: AAQ93018.1
AK098396 mRNA Translation: BAC05297.1
AK122595 mRNA Translation: BAC85486.1
BC104831 mRNA Translation: AAI04832.1
BC113562 mRNA Translation: AAI13563.1
AL834419 mRNA Translation: CAD39081.1
CCDSiCCDS8456.1 [Q14CZ8-1]
RefSeqiNP_689935.2, NM_152722.4 [Q14CZ8-1]

3D structure databases

SMRiQ14CZ8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128639, 1 interactor
CORUMiQ14CZ8
STRINGi9606.ENSP00000298251

Protein family/group databases

TCDBi8.A.23.1.5 the basigin (basigin) family

PTM databases

iPTMnetiQ14CZ8
PhosphoSitePlusiQ14CZ8

Polymorphism and mutation databases

BioMutaiHEPACAM
DMDMi121945515

Proteomic databases

jPOSTiQ14CZ8
MaxQBiQ14CZ8
PaxDbiQ14CZ8
PeptideAtlasiQ14CZ8
PRIDEiQ14CZ8
ProteomicsDBi60339
60340 [Q14CZ8-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
220296
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000298251; ENSP00000298251; ENSG00000165478 [Q14CZ8-1]
GeneIDi220296
KEGGihsa:220296
UCSCiuc001qbk.4 human [Q14CZ8-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
220296
DisGeNETi220296

GeneCards: human genes, protein and diseases

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GeneCardsi
HEPACAM
GeneReviewsiHEPACAM

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0010231
HGNCiHGNC:26361 HEPACAM
HPAiCAB025486
HPA017613
MalaCardsiHEPACAM
MIMi611642 gene
613925 phenotype
613926 phenotype
neXtProtiNX_Q14CZ8
OpenTargetsiENSG00000165478
Orphaneti210548 Macrocephaly-intellectual disability-autism syndrome
2478 Megalencephalic leukoencephalopathy with subcortical cysts
PharmGKBiPA162390830

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IFBM Eukaryota
ENOG410ZWCW LUCA
GeneTreeiENSGT00950000182716
HOGENOMiHOG000060194
InParanoidiQ14CZ8
KOiK23116
OMAiPIKITVY
PhylomeDBiQ14CZ8
TreeFamiTF331199

Miscellaneous databases

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

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GenomeRNAii
220296

Protein Ontology

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PROi
PR:Q14CZ8

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000165478 Expressed in 109 organ(s), highest expression level in substantia nigra
GenevisibleiQ14CZ8 HS

Family and domain databases

Gene3Di2.60.40.10, 2 hits
InterProiView protein in InterPro
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003599 Ig_sub
IPR003598 Ig_sub2
IPR013106 Ig_V-set
PfamiView protein in Pfam
PF07686 V-set, 1 hit
SMARTiView protein in SMART
SM00409 IG, 2 hits
SM00408 IGc2, 1 hit
SUPFAMiSSF48726 SSF48726, 2 hits
PROSITEiView protein in PROSITE
PS50835 IG_LIKE, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<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 nameiHECAM_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: Q14CZ8
Secondary accession number(s): Q67IP8
, Q6ZWL4, Q8N7I3, Q8ND35
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 21, 2007
Last sequence update: August 22, 2006
Last modified: May 8, 2019
This is version 115 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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