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UniProtKB - Q9H6B4 (CLMP_HUMAN)
Protein
CXADR-like membrane protein
Gene
CLMP
Organism
Homo sapiens (Human)
Status
Functioni
May be involved in the cell-cell adhesion. May play a role in adipocyte differentiation and development of obesity. Is required for normal small intestine development.
3 PublicationsGO - Biological processi
- digestive tract development Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q9H6B4 |
SignaLinki | Q9H6B4 |
Names & Taxonomyi
Protein namesi | Recommended name: CXADR-like membrane proteinAlternative name(s): Adipocyte adhesion molecule Coxsackie- and adenovirus receptor-like membrane protein Short name: CAR-like membrane protein |
Gene namesi | Name:CLMP Synonyms:ACAM, ASAM ORF Names:UNQ318/PRO363 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:24039, CLMP |
MIMi | 611693, gene |
neXtProti | NX_Q9H6B4 |
VEuPathDBi | HostDB:ENSG00000166250 |
Subcellular locationi
Plasma membrane
- Cell membrane Curated; Single-pass type I membrane protein Curated
Other locations
- tight junction 2 Publications
Cytoskeleton
- cytoplasmic microtubule Source: UniProtKB
Plasma Membrane
- plasma membrane Source: UniProtKB-SubCell
Other locations
- bicellular tight junction Source: UniProtKB
- cell surface Source: UniProtKB
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 19 – 235 | ExtracellularSequence analysisAdd BLAST | 217 | |
Transmembranei | 236 – 256 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 257 – 373 | CytoplasmicSequence analysisAdd BLAST | 117 |
Keywords - Cellular componenti
Cell junction, Cell membrane, Membrane, Tight junctionPathology & Biotechi
Involvement in diseasei
Congenital short bowel syndrome (CSBS)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disease characterized by a shortened small intestine, intestinal malrotation, and malabsorption. The mean length of the small intestine in CSBS patients is approximately 50 cm, compared with a normal length at birth of 190-280 cm. Patients with CSBS may develop severe malnutrition as a result of the hugely reduced absorptive surface of the small intestine. Infants require parenteral nutrition for survival. However, parenteral nutrition itself causes life-threatening complications such as sepsis and liver failure which are associated with a high rate of mortality early in life.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069713 | 124 | V → D in CSBS; affects subcellular location; the mutant protein is localized in the cytoplasm. 1 PublicationCorresponds to variant dbSNP:rs587776967EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 79827 |
MalaCardsi | CLMP |
MIMi | 615237, phenotype |
OpenTargetsi | ENSG00000166250 |
Orphaneti | 2301, Congenital short bowel syndrome |
Miscellaneous databases
Pharosi | Q9H6B4, Tbio |
Genetic variation databases
BioMutai | CLMP |
DMDMi | 74761472 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 18 | Sequence analysisAdd BLAST | 18 | |
ChainiPRO_0000293026 | 19 – 373 | CXADR-like membrane proteinAdd BLAST | 355 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 35 ↔ 111 | PROSITE-ProRule annotation | ||
Glycosylationi | 74 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 153 ↔ 208 | PROSITE-ProRule annotation | ||
Glycosylationi | 197 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
EPDi | Q9H6B4 |
jPOSTi | Q9H6B4 |
MassIVEi | Q9H6B4 |
MaxQBi | Q9H6B4 |
PaxDbi | Q9H6B4 |
PeptideAtlasi | Q9H6B4 |
PRIDEi | Q9H6B4 |
ProteomicsDBi | 80973 |
PTM databases
GlyConnecti | 1161, 1 N-Linked glycan (1 site) |
GlyGeni | Q9H6B4, 2 sites, 1 N-linked glycan (1 site) |
iPTMneti | Q9H6B4 |
PhosphoSitePlusi | Q9H6B4 |
Expressioni
Tissue specificityi
Predominantly expressed in epithelial cells within different tissues and in the white adipose tissue. Expressed at high levels in small intestine and placenta, at intermediate levels in the heart, skeletal muscle, colon, spleen, kidney and lung and at low levels in the liver and peripheral blood leukocytes. Highly abundant in the intestine during embryo and fetal development (at protein level).3 Publications
Developmental stagei
At 7 and 8 weeks of development, it is highly abundant in the rapidly dividing cells of the central and peripheral nervous systems, the mesenchyme of the frontonasal and mandibular processes and the dermamyotome, and it is expressed in the endodermal derivatives of the foregut, midgut, and hindgut, as well as in the liver, lung, esophagus, and trachea. During midterm fetal stages, 18 and 23 weeks of development, increased expression is observed in the intestinal crypts. Midterm liver and kidney tissues strongly express CLMP in the parenchyma of the lobules and cortex, respectively.1 Publication
Inductioni
Up-regulated in mature adipocytes and adipocyte tissue of obese individuals.1 Publication
Gene expression databases
Bgeei | ENSG00000166250, Expressed in cartilage tissue and 195 other tissues |
Genevisiblei | Q9H6B4, HS |
Organism-specific databases
HPAi | ENSG00000166250, Tissue enhanced (adipose) |
Interactioni
Binary interactionsi
Q9H6B4
With | #Exp. | IntAct |
---|---|---|
LCN2 [P80188] | 3 | EBI-4314260,EBI-11911016 |
Protein-protein interaction databases
BioGRIDi | 122919, 10 interactors |
IntActi | Q9H6B4, 7 interactors |
STRINGi | 9606.ENSP00000405577 |
Miscellaneous databases
RNActi | Q9H6B4, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 19 – 127 | Ig-like C2-type 1Add BLAST | 109 | |
Domaini | 135 – 224 | Ig-like C2-type 2Add BLAST | 90 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 264 – 373 | DisorderedSequence analysisAdd BLAST | 110 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 264 – 282 | Basic and acidic residuesSequence analysisAdd BLAST | 19 | |
Compositional biasi | 285 – 327 | Polar residuesSequence analysisAdd BLAST | 43 | |
Compositional biasi | 354 – 373 | Polar residuesSequence analysisAdd BLAST | 20 |
Keywords - Domaini
Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3866, Eukaryota |
GeneTreei | ENSGT00940000161031 |
HOGENOMi | CLU_040549_0_1_1 |
InParanoidi | Q9H6B4 |
OMAi | SRHVYSN |
OrthoDBi | 995551at2759 |
PhylomeDBi | Q9H6B4 |
TreeFami | TF330875 |
Family and domain databases
Gene3Di | 2.60.40.10, 2 hits |
InterProi | View protein in InterPro IPR042454, CLMP IPR007110, Ig-like_dom IPR036179, Ig-like_dom_sf IPR013783, Ig-like_fold IPR003599, Ig_sub IPR003598, Ig_sub2 IPR013106, Ig_V-set |
PANTHERi | PTHR44783, PTHR44783, 1 hit |
Pfami | View protein in Pfam PF13895, Ig_2, 1 hit PF07686, V-set, 1 hit |
SMARTi | View protein in SMART SM00409, IG, 2 hits SM00408, IGc2, 2 hits SM00406, IGv, 1 hit |
SUPFAMi | SSF48726, SSF48726, 2 hits |
PROSITEi | View protein in PROSITE PS50835, IG_LIKE, 2 hits |
i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
Q9H6B4-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MSLLLLLLLV SYYVGTLGTH TEIKRVAEEK VTLPCHHQLG LPEKDTLDIE
60 70 80 90 100
WLLTDNEGNQ KVVITYSSRH VYNNLTEEQK GRVAFASNFL AGDASLQIEP
110 120 130 140 150
LKPSDEGRYT CKVKNSGRYV WSHVILKVLV RPSKPKCELE GELTEGSDLT
160 170 180 190 200
LQCESSSGTE PIVYYWQRIR EKEGEDERLP PKSRIDYNHP GRVLLQNLTM
210 220 230 240 250
SYSGLYQCTA GNEAGKESCV VRVTVQYVQS IGMVAGAVTG IVAGALLIFL
260 270 280 290 300
LVWLLIRRKD KERYEEEERP NEIREDAEAP KARLVKPSSS SSGSRSSRSG
310 320 330 340 350
SSSTRSTANS ASRSQRTLST DAAPQPGLAT QAYSLVGPEV RGSEPKKVHH
360 370
ANLTKAETTP SMIPSQSRAF QTV
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_049824 | 69 | R → H. Corresponds to variant dbSNP:rs2276348Ensembl. | 1 | |
Natural variantiVAR_069713 | 124 | V → D in CSBS; affects subcellular location; the mutant protein is localized in the cytoplasm. 1 PublicationCorresponds to variant dbSNP:rs587776967EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY326422 mRNA Translation: AAP88386.1 AY358340 mRNA Translation: AAQ88706.1 AK026068 mRNA Translation: BAB15347.1 BC009371 mRNA Translation: AAH09371.1 BK001245 mRNA Translation: DAA01139.1 |
CCDSi | CCDS8441.1 |
RefSeqi | NP_079045.1, NM_024769.3 |
Genome annotation databases
Ensembli | ENST00000448775; ENSP00000405577; ENSG00000166250 |
GeneIDi | 79827 |
KEGGi | hsa:79827 |
MANE-Selecti | ENST00000448775.4; ENSP00000405577.2; NM_024769.5; NP_079045.1 |
UCSCi | uc001pyt.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY326422 mRNA Translation: AAP88386.1 AY358340 mRNA Translation: AAQ88706.1 AK026068 mRNA Translation: BAB15347.1 BC009371 mRNA Translation: AAH09371.1 BK001245 mRNA Translation: DAA01139.1 |
CCDSi | CCDS8441.1 |
RefSeqi | NP_079045.1, NM_024769.3 |
3D structure databases
SMRi | Q9H6B4 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 122919, 10 interactors |
IntActi | Q9H6B4, 7 interactors |
STRINGi | 9606.ENSP00000405577 |
PTM databases
GlyConnecti | 1161, 1 N-Linked glycan (1 site) |
GlyGeni | Q9H6B4, 2 sites, 1 N-linked glycan (1 site) |
iPTMneti | Q9H6B4 |
PhosphoSitePlusi | Q9H6B4 |
Genetic variation databases
BioMutai | CLMP |
DMDMi | 74761472 |
Proteomic databases
EPDi | Q9H6B4 |
jPOSTi | Q9H6B4 |
MassIVEi | Q9H6B4 |
MaxQBi | Q9H6B4 |
PaxDbi | Q9H6B4 |
PeptideAtlasi | Q9H6B4 |
PRIDEi | Q9H6B4 |
ProteomicsDBi | 80973 |
Protocols and materials databases
Antibodypediai | 1118, 232 antibodies from 29 providers |
DNASUi | 79827 |
Genome annotation databases
Ensembli | ENST00000448775; ENSP00000405577; ENSG00000166250 |
GeneIDi | 79827 |
KEGGi | hsa:79827 |
MANE-Selecti | ENST00000448775.4; ENSP00000405577.2; NM_024769.5; NP_079045.1 |
UCSCi | uc001pyt.4, human |
Organism-specific databases
CTDi | 79827 |
DisGeNETi | 79827 |
GeneCardsi | CLMP |
HGNCi | HGNC:24039, CLMP |
HPAi | ENSG00000166250, Tissue enhanced (adipose) |
MalaCardsi | CLMP |
MIMi | 611693, gene 615237, phenotype |
neXtProti | NX_Q9H6B4 |
OpenTargetsi | ENSG00000166250 |
Orphaneti | 2301, Congenital short bowel syndrome |
VEuPathDBi | HostDB:ENSG00000166250 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3866, Eukaryota |
GeneTreei | ENSGT00940000161031 |
HOGENOMi | CLU_040549_0_1_1 |
InParanoidi | Q9H6B4 |
OMAi | SRHVYSN |
OrthoDBi | 995551at2759 |
PhylomeDBi | Q9H6B4 |
TreeFami | TF330875 |
Enzyme and pathway databases
PathwayCommonsi | Q9H6B4 |
SignaLinki | Q9H6B4 |
Miscellaneous databases
BioGRID-ORCSi | 79827, 6 hits in 1032 CRISPR screens |
ChiTaRSi | CLMP, human |
GenomeRNAii | 79827 |
Pharosi | Q9H6B4, Tbio |
PROi | PR:Q9H6B4 |
RNActi | Q9H6B4, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000166250, Expressed in cartilage tissue and 195 other tissues |
Genevisiblei | Q9H6B4, HS |
Family and domain databases
Gene3Di | 2.60.40.10, 2 hits |
InterProi | View protein in InterPro IPR042454, CLMP IPR007110, Ig-like_dom IPR036179, Ig-like_dom_sf IPR013783, Ig-like_fold IPR003599, Ig_sub IPR003598, Ig_sub2 IPR013106, Ig_V-set |
PANTHERi | PTHR44783, PTHR44783, 1 hit |
Pfami | View protein in Pfam PF13895, Ig_2, 1 hit PF07686, V-set, 1 hit |
SMARTi | View protein in SMART SM00409, IG, 2 hits SM00408, IGc2, 2 hits SM00406, IGv, 1 hit |
SUPFAMi | SSF48726, SSF48726, 2 hits |
PROSITEi | View protein in PROSITE PS50835, IG_LIKE, 2 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | CLMP_HUMAN | |
Accessioni | Q9H6B4Primary (citable) accession number: Q9H6B4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 26, 2007 |
Last sequence update: | March 1, 2001 | |
Last modified: | February 23, 2022 | |
This is version 171 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot