CERCAM cerebral endothelial cell adhesion molecule [Homo sapiens (human)] - Gene

Summary

Official Symbol: CERCAMprovided by HGNC
Official Full Name: cerebral endothelial cell adhesion moleculeprovided by HGNC
Primary source: HGNC:HGNC:23723
See related: Ensembl:ENSG00000167123 MIM:616626; AllianceGenome:HGNC:23723
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: CEECAM1; GLT25D3
Summary: Enables identical protein binding activity. Acts upstream of or within cell adhesion. Predicted to be located in endoplasmic reticulum lumen. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in brain (RPKM 35.8), placenta (RPKM 14.3) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.11

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (128419160..128437351)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (140613098..140644454)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (131181439..131199630)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The oncogenic role of the cerebral endothelial cell adhesion molecule (CERCAM) in bladder cancer cells in vitro and in vivo.
Title: The oncogenic role of the cerebral endothelial cell adhesion molecule (CERCAM) in bladder cancer cells in vitro and in vivo.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_6507-6508:992007256:1 (e-PCR)
- UniSTS:231234

MARC_6507-6508:996689724:1 (e-PCR)
- UniSTS:231234

SGC34509 (e-PCR)
- UniSTS:10674

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
NOT enables procollagen galactosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in leukocyte cell-cell adhesion	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum lumen	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: inactive glycosyltransferase 25 family member 3

Names: cerebral cell adhesion molecule; cerebral endothelial cell adhesion molecule 1; glycosyltransferase 25 domain containing 3; glycosyltransferase 25 family member 3; probable inactive glycosyltransferase 25 family member 3

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)

NM_001286760.1 → NP_001273689.1 inactive glycosyltransferase 25 family member 3 isoform b

See identical proteins and their annotated locations for NP_001273689.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation from a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.

Source sequence(s)

AK314294, BC098432

Consensus CDS

CCDS69675.1

UniProtKB/TrEMBL

B4DNI4

Conserved Domains (1) summary

cd06532
Location:243 → 425

Glyco_transf_25; Glycosyltransferase family 25 [lipooligosaccharide (LOS) biosynthesis protein] is a family of glycosyltransferases involved in LOS biosynthesis. The members include the beta(1,4) galactosyltransferases: Lgt2 of Moraxella catarrhalis, LgtB and LgtE of ...
NM_016174.5 → NP_057258.3 inactive glycosyltransferase 25 family member 3 isoform a precursor

See identical proteins and their annotated locations for NP_057258.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

BC098432, CX871555

Consensus CDS

CCDS6901.2

UniProtKB/Swiss-Prot

A7MD00, C4AMA2, Q0VDF3, Q2VPJ4, Q4KMP2, Q5T4B1, Q5T4B2, Q8N107, Q96EZ5, Q9P226, Q9UMW5

UniProtKB/TrEMBL

B4DNI4

Related

ENSP00000361929.4, ENST00000372838.9

Conserved Domains (2) summary

cd06532
Location:321 → 503

Glyco_transf_25; Glycosyltransferase family 25 [lipooligosaccharide (LOS) biosynthesis protein] is a family of glycosyltransferases involved in LOS biosynthesis. The members include the beta(1,4) galactosyltransferases: Lgt2 of Moraxella catarrhalis, LgtB and LgtE of ...

cl11394
Location:37 → 81

Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

128419160..128437351

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047423450.1 → XP_047279406.1 inactive glycosyltransferase 25 family member 3 isoform X1
XM_011518763.4 → XP_011517065.1 inactive glycosyltransferase 25 family member 3 isoform X1

See identical proteins and their annotated locations for XP_011517065.1

UniProtKB/TrEMBL

B4DNI4

Related

ENSP00000361933.1, ENST00000372842.5

Conserved Domains (1) summary

cd06532
Location:243 → 425

Glyco_transf_25; Glycosyltransferase family 25 [lipooligosaccharide (LOS) biosynthesis protein] is a family of glycosyltransferases involved in LOS biosynthesis. The members include the beta(1,4) galactosyltransferases: Lgt2 of Moraxella catarrhalis, LgtB and LgtE of ...