LMBR1

GENERAL INFORMATION

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Gene name

LMBR1

Gene description

Limb development membrane protein 1

Protein class

Disease related genes
Predicted membrane proteins

Predicted localization

Membrane

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in most tissues.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Uncertain based on 1 antibody.
HPA016592
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Heart muscle

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

LMBR1 (HGNC Symbol)

Synonyms

ACHP, C7orf2, FLJ11665, ZRS

Description

Limb development membrane protein 1 (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the sonic hedgehog gene is located within an intron of this gene. Consequently, disruption of this genic region can alter sonic hedgehog expression and affect limb patterning, but it is not known if this gene functions directly in limb development. Mutations and chromosomal deletions and rearrangements in this genic region are associated with acheiropody and preaxial polydactyly, which likely result from altered sonic hedgehog expression. [provided by RefSeq, Jul 2008]

Chromosome

7

Cytoband

q36.3

Chromosome location (bp)

156668946 - 156893230

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000105983 (version 78.38)

Entrez gene

64327

UniProt

Q8WVP7 (UniProt - Evidence at protein level)

neXtProt

NX_Q8WVP7

Antibodypedia

LMBR1 antibodies


PROTEIN BROWSER

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ENST00000353442
 
ENST00000359422
 
ENST00000415428
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

LMBR1-001 ENSP00000326604
ENST00000353442
Q8WVP7
Show all »
Show » Show » 490 55.1 No 9
LMBR1-004 ENSP00000408256
ENST00000415428
H0Y6V6
Show all »
Show » 529 59.2 No 9
LMBR1-201 ENSP00000352392
ENST00000359422
Q8NDP7
Show all »
Show » 284 31.5 Yes 4