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

Gene ID: 64327, updated on 9-Feb-2020

Summary

Official Symbol
LMBR1provided by HGNC
Official Full Name
limb development membrane protein 1provided by HGNC
Primary source
HGNC:HGNC:13243
See related
Ensembl:ENSG00000105983 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]
Expression
Ubiquitous expression in testis (RPKM 9.4), adrenal (RPKM 8.4) and 25 other tissues See more
Orthologs

Genomic context

See LMBR1 in Genome Data Viewer
Location:
7q36.3
Exon count:
25
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (156669012..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 long intergenic non-protein coding RNA 1006 Neighboring gene uncharacterized LOC101927858 Neighboring gene ribosomal protein L26 pseudogene 23 Neighboring gene ring finger protein 32 Neighboring gene Sharpr-MPRA regulatory region 13578 Neighboring gene ZRS shadow enhancer Neighboring gene ZPA regulatory sequence Neighboring gene uncharacterized LOC102723795 Neighboring gene RNA, U4 small nuclear 31, pseudogene Neighboring gene uncharacterized LOC105375604

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 

General protein information

Preferred Names
limb region 1 protein homolog
Names
differentiation-related gene 14 protein
limb region 1 homolog

NCBI Reference Sequences (RefSeq)

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_009240.2 RefSeqGene

    Range
    5026..220418
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001350953.2NP_001337882.1  limb region 1 protein homolog isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AC005534, AC007075, AC007097
    Related
    ENSP00000408256.1, ENST00000415428.5
    Conserved Domains (1) summary
    pfam04791
    Location:19491
    LMBR1; LMBR1-like membrane protein
  2. NM_001350954.2NP_001337883.1  limb region 1 protein homolog isoform c

    Status: REVIEWED

    Source sequence(s)
    AC005534, AC007075, AC007097
    Conserved Domains (1) summary
    pfam04791
    Location:8317
    LMBR1; LMBR1-like membrane protein
  3. NM_001350955.2NP_001337884.1  limb region 1 protein homolog isoform d precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), as well as variant 5, encodes isoform d.
    Source sequence(s)
    AC005534, AC007075, AC007097
    Conserved Domains (1) summary
    pfam04791
    Location:33298
    LMBR1; LMBR1-like membrane protein
  4. NM_001350956.2NP_001337885.1  limb region 1 protein homolog isoform d precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), as well as variant 4, encodes isoform d.
    Source sequence(s)
    AC005534, AC007075, AC007097
    Conserved Domains (1) summary
    pfam04791
    Location:33298
    LMBR1; LMBR1-like membrane protein
  5. NM_001350957.2NP_001337886.1  limb region 1 protein homolog isoform e

    Status: REVIEWED

    Source sequence(s)
    AC005534, AC007075, AC007097
    Conserved Domains (1) summary
    pfam04791
    Location:1287
    LMBR1; LMBR1-like membrane protein
  6. NM_001350958.2NP_001337887.1  limb region 1 protein homolog isoform f precursor

    Status: REVIEWED

    Source sequence(s)
    AC005534, AC007075, AC007097
    Consensus CDS
    CCDS87569.1
    Related
    ENSP00000352392.4, ENST00000359422.8
    Conserved Domains (1) summary
    pfam04791
    Location:33258
    LMBR1; LMBR1-like membrane protein
  7. NM_001363409.2NP_001350338.1  limb region 1 protein homolog isoform g

    Status: REVIEWED

    Source sequence(s)
    AC005534, AC007075, BC017663, DA238712, EB388873, H18430
    Conserved Domains (1) summary
    pfam04791
    Location:19451
    LMBR1; LMBR1-like membrane protein
  8. NM_001363410.2NP_001350339.1  limb region 1 protein homolog isoform h

    Status: REVIEWED

    Source sequence(s)
    AC005534, AC007075, AC007097
    Conserved Domains (1) summary
    pfam04791
    Location:19410
    LMBR1; LMBR1-like membrane protein
  9. NM_001363411.2NP_001350340.1  limb region 1 protein homolog isoform i

    Status: REVIEWED

    Source sequence(s)
    AC005534, AC007075, AC007097
    Conserved Domains (1) summary
    pfam04791
    Location:1327
    LMBR1; LMBR1-like membrane protein
  10. NM_001363412.2NP_001350341.1  limb region 1 protein homolog isoform j

    Status: REVIEWED

    Source sequence(s)
    AC005534, AK299753, BC017663, DA238712, H18430
    Conserved Domains (1) summary
    pfam04791
    Location:35389
    LMBR1; LMBR1-like membrane protein
  11. NM_001363413.2NP_001350342.1  limb region 1 protein homolog isoform d precursor

    Status: REVIEWED

    Source sequence(s)
    AC005534, BC017663, BC063649, DA238712, H18430
    Conserved Domains (1) summary
    pfam04791
    Location:33298
    LMBR1; LMBR1-like membrane protein
  12. NM_022458.4NP_071903.2  limb region 1 protein homolog isoform b

    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
    Related
    ENSP00000326604.7, ENST00000353442.10
    Conserved Domains (1) summary
    pfam04791
    Location:19450
    LMBR1; LMBR1-like membrane protein

RNA

  1. NR_146958.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC005534, AC007075, AC007097
  2. NR_146959.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC005534, AC007075, AC007097

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    156669012..156893208 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005249558.2XP_005249615.1  limb region 1 protein homolog isoform X5

    Conserved Domains (1) summary
    pfam04791
    Location:26262
    LMBR1; LMBR1-like membrane protein
  2. XM_017012515.2XP_016868004.1  limb region 1 protein homolog isoform X4

RNA

  1. XR_002956480.1 RNA Sequence

  2. XR_002956477.1 RNA Sequence

  3. XR_002956478.1 RNA Sequence

  4. XR_001744848.1 RNA Sequence

  5. XR_001744847.1 RNA Sequence

  6. XR_002956481.1 RNA Sequence

  7. XR_002956479.1 RNA Sequence

  8. XR_002956482.1 RNA Sequence

  9. XR_428185.1 RNA Sequence

  10. XR_001744850.1 RNA Sequence

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