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

Gene ID: 64327, updated on 11-Feb-2024

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; AllianceGenome:HGNC:13243
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; TPTPS; 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
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Genomic context

See LMBR1 in Genome Data Viewer
Location:
7q36.3
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (156669012..156893183, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (157856727..158080951, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (156461706..156685877, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RNF32 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:156332839-156333338 Neighboring gene long intergenic non-protein coding RNA 244 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:156377606-156378120 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:156378121-156378635 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:156400279-156400790 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26908 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:156412155-156412844 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:156412845-156413534 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:156432899-156433490 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:156443773-156443992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26910 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:156449836-156451035 Neighboring gene ribosomal protein L26 pseudogene 23 Neighboring gene ring finger protein 32 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26911 Neighboring gene Sharpr-MPRA regulatory region 13578 Neighboring gene ZRS shadow enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26912 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26913 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:156613382-156613882 Neighboring gene ZPA regulatory sequence Neighboring gene ReSE screen-validated silencer GRCh37_chr7:156647348-156647581 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:156657413-156657607 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:156665750-156665992 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:156670519-156670739 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18853 Neighboring gene uncharacterized LOC102723795 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26914 Neighboring gene RNA, U4 small nuclear 31, pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:156707384-156708583 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26915 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26917 Neighboring gene uncharacterized threonine-rich GPI-anchored glycoprotein PJ4664.02-like

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

Clone Names

  • FLJ11665

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transmembrane signaling receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
involved_in embryonic digit morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
located_in 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)

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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.

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
    UniProtKB/TrEMBL
    H0Y6V6
    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

    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

    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

    Status: REVIEWED

    Source sequence(s)
    AC005534, AC007075, AC007097
    UniProtKB/TrEMBL
    Q8NDP7
    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
    UniProtKB/TrEMBL
    H0Y6V6
    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
    UniProtKB/TrEMBL
    A8K4S2
    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
    UniProtKB/TrEMBL
    B7Z633
    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

    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
    A4D242, Q8N3E3, Q8WVP7, Q96QZ5, Q9H5N0, Q9HAG9, Q9UDN5, Q9Y6U2
    UniProtKB/TrEMBL
    A8K4S2
    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_146959.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC005534, AC007075, AC007097

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

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    156669012..156893183 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005249558.3XP_005249615.1  limb region 1 protein homolog isoform X6

    Conserved Domains (1) summary
    pfam04791
    Location:26262
    LMBR1; LMBR1-like membrane protein
  2. XM_017012515.3XP_016868004.1  limb region 1 protein homolog isoform X5

  3. XM_047420703.1XP_047276659.1  limb region 1 protein homolog isoform X1

    UniProtKB/TrEMBL
    A8K4S2
  4. XM_047420705.1XP_047276661.1  limb region 1 protein homolog isoform X3

  5. XM_047420704.1XP_047276660.1  limb region 1 protein homolog isoform X2

  6. XM_047420706.1XP_047276662.1  limb region 1 protein homolog isoform X4

RNA

  1. XR_007060137.1 RNA Sequence

  2. XR_007060136.1 RNA Sequence

  3. XR_007060135.1 RNA Sequence

  4. XR_007060134.1 RNA Sequence

  5. XR_007060133.1 RNA Sequence

  6. XR_007060131.1 RNA Sequence

  7. XR_007060130.1 RNA Sequence

  8. XR_007060132.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    157856727..158080951 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054358789.1XP_054214764.1  limb region 1 protein homolog isoform X1

    UniProtKB/TrEMBL
    A8K4S2
  2. XM_054358791.1XP_054214766.1  limb region 1 protein homolog isoform X3

  3. XM_054358790.1XP_054214765.1  limb region 1 protein homolog isoform X2

  4. XM_054358792.1XP_054214767.1  limb region 1 protein homolog isoform X4

RNA

  1. XR_008487732.1 RNA Sequence

  2. XR_008487731.1 RNA Sequence

  3. XR_008487730.1 RNA Sequence

  4. XR_008487728.1 RNA Sequence

  5. XR_008487729.1 RNA Sequence