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LMBR1 limb development membrane protein 1 [ Homo sapiens (human) ]

Gene ID: 64327, updated on 4-Jul-2015
Official Symbol
LMBR1provided by HGNC
Official Full Name
limb development membrane protein 1provided by HGNC
Primary source
HGNC:HGNC:13243
See related
Ensembl:ENSG00000105983; HPRD:05700; MIM:605522
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LSS; TPT; ZRS; ACHP; PPD2; THYP; DIF14; C7orf2
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]
Orthologs
See LMBR1 in Epigenomics, MapViewer
Location:
7q36
Exon count:
22
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 7 NC_000007.14 (156668946..156893208, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (156470537..156685902, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927858 Neighboring gene chromosome 7 open reading frame 13 Neighboring gene ring finger protein 32 Neighboring gene uncharacterized LOC102723795 Neighboring gene uncharacterized threonine-rich GPI-anchored glycoprotein PJ4664.02-like

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Markers

Homology

Clone Names

  • FLJ11665

Gene Ontology Provided by GOA

Process Evidence Code Pubs
embryonic digit morphogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
limb region 1 protein homolog
Names
differentiation-related gene 14 protein
limb region 1 homolog

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.

Genomic

  1. NG_009240.1 RefSeqGene

    Range
    5001..217333
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_022458.3NP_071903.2  limb region 1 protein homolog

    See identical proteins and their annotated locations for NP_071903.2

    Status: REVIEWED

    Source sequence(s)
    AC005534, BC017663, DA238712, H18430
    Consensus CDS
    CCDS5945.1
    UniProtKB/Swiss-Prot
    Q8WVP7
    Conserved Domains (1) summary
    pfam04791
    Location:23446
    LMBR1; LMBR1-like membrane protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

    Range
    156668946..156893208
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005249558.2XP_005249615.1  

    Conserved Domains (1) summary
    pfam04791
    Location:23252
    LMBR1; LMBR1-like membrane protein
  2. XM_005249555.2XP_005249612.1  

    Conserved Domains (1) summary
    pfam04791
    Location:23410
    LMBR1; LMBR1-like membrane protein
  3. XM_011516462.1XP_011514764.1  

    Conserved Domains (1) summary
    pfam04791
    Location:8353
    LMBR1; LMBR1-like membrane protein
  4. XM_005249556.2XP_005249613.1  

    Related
    ENSP00000352392, ENST00000359422
    Conserved Domains (1) summary
    pfam04791
    Location:11294
    LMBR1; LMBR1-like membrane protein

RNA

  1. XR_927508.1 RNA Sequence

  2. XR_428185.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    Range
    156482285..156694637
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)