U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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

Summary

Go to the top of the page Help
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
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome. Xu J, et al. Am J Med Genet A, 2020 Sep. PMID 32662247
  2. Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes. Potuijt JWP, et al. J Med Genet, 2020 Oct. PMID 32179704, Free PMC Article
  3. Intriguing balancing selection on the intron 5 region of LMBR1 in human population. He F, et al. PLoS One, 2008 Aug 13. PMID 18698406, Free PMC Article
  4. Linkage of preaxial polydactyly type 2 to 7q36. Hing AV, et al. Am J Med Genet, 1995 Aug 28. PMID 8533803
  5. A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia. Girisha KM, et al. Am J Med Genet A, 2014 Apr. PMID 24478176

See all (50) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes.
    Title: Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes.
  2. Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome.
    Title: Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome.
  3. Results identify a novel g.101779T>A variant segregating with all individuals affected with preaxial polydactyly type 1(PPDI).
    Title: A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud.
  4. These include a patient with hypoplastic phalanges and absent hallux bilaterally with de novo deletion of 11.9 Mb on 7p21.1-22.1 spanning 63 genes including RAC1, another patient with severe Holt-Oram syndrome and a large de novo deletion 2.2 Mb on 12q24.13-24.21 spanning 20 genes including TBX3 and TBX5, and a third patient with acheiropodia who had a nullizygous deletion of 102 kb on 7q36.3 spanning LMBR1
    Title: Novel copy number variants and major limb reduction malformation: Report of three cases.
  5. A novel ZRS mutation found in the Mexican population, 402C>T, suggests that a dosage effect exists for this mutation.
    Title: A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form.
  6. Data describe extensive variation in limb phenotype in a large family and report on a novel sequence variation NG_009240.1: g.106737G>T (traditional nomenclature: ZRS404G>T) in the ZRS within the LMBR1 gene.
    Title: A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia.
  7. Review of the literature and cases in a Chinese family confirm genetic homogeneity (duplication of ZRS wintin intron 5 of LMBR1) of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome.
    Title: Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature.
  8. report of a new point mutation within the ZRS in a family with digit malformations including triphalangeal thumb, pre-axial polydactyly and post-axial polydactyly; heterozygous C>A mutation at position 287 of the ZRS enhancer was detected in all affected subjects and is absent from four unaffected family members
    Title: A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly.
  9. A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb.
    Title: A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb.
  10. Effect on transcription factor binding of a novel ZRS point mutation (463T>G) in a Pakistani family with preaxial polydactyly and triphalangeal thumb.
    Title: Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS.
Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Acheiropodia
MedGen: C0265559 OMIM: 200500 GeneReviews: Not available
Compare labs
Laurin-Sandrow syndrome
MedGen: C1851100 OMIM: 135750 GeneReviews: Not available
Compare labs
Syndactyly type 4
MedGen: C1861355 OMIM: 186200 GeneReviews: Not available
Compare labs
Triphalangeal thumb with polysyndactyly syndrome
MedGen: C5779878 OMIM: 190605 GeneReviews: Not available
not available

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

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
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

Go to the top of the page Help
Preferred Names
limb region 1 protein homolog
Names
differentiation-related gene 14 protein
limb region 1 homolog

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001350953.2 → NP_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:19 → 491
    LMBR1; LMBR1-like membrane protein

  2. NM_001350954.2 → NP_001337883.1  limb region 1 protein homolog isoform c

    Status: REVIEWED

    Source sequence(s)
    AC005534, AC007075, AC007097
    Conserved Domains (1) summary
    pfam04791
    Location:8 → 317
    LMBR1; LMBR1-like membrane protein

  3. NM_001350955.2 → NP_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:33 → 298
    LMBR1; LMBR1-like membrane protein

  4. NM_001350956.2 → NP_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:33 → 298
    LMBR1; LMBR1-like membrane protein

  5. NM_001350957.2 → NP_001337886.1  limb region 1 protein homolog isoform e

    Status: REVIEWED

    Source sequence(s)
    AC005534, AC007075, AC007097
    Conserved Domains (1) summary
    pfam04791
    Location:1 → 287
    LMBR1; LMBR1-like membrane protein

  6. NM_001350958.2 → NP_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:33 → 258
    LMBR1; LMBR1-like membrane protein

  7. NM_001363409.2 → NP_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:19 → 451
    LMBR1; LMBR1-like membrane protein

  8. NM_001363410.2 → NP_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:19 → 410
    LMBR1; LMBR1-like membrane protein

  9. NM_001363411.2 → NP_001350340.1  limb region 1 protein homolog isoform i

    Status: REVIEWED

    Source sequence(s)
    AC005534, AC007075, AC007097
    Conserved Domains (1) summary
    pfam04791
    Location:1 → 327
    LMBR1; LMBR1-like membrane protein

  10. NM_001363412.2 → NP_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:35 → 389
    LMBR1; LMBR1-like membrane protein

  11. NM_001363413.2 → NP_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:33 → 298
    LMBR1; LMBR1-like membrane protein

  12. NM_022458.4 → NP_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:19 → 450
    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_005249558.3 → XP_005249615.1  limb region 1 protein homolog isoform X6

    Conserved Domains (1) summary
    pfam04791
    Location:26 → 262
    LMBR1; LMBR1-like membrane protein

  2. XM_017012515.3 → XP_016868004.1  limb region 1 protein homolog isoform X5

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

  4. XM_047420705.1 → XP_047276661.1  limb region 1 protein homolog isoform X3

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

  6. XM_047420706.1 → XP_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_054358789.1 → XP_054214764.1  limb region 1 protein homolog isoform X1

  2. XM_054358791.1 → XP_054214766.1  limb region 1 protein homolog isoform X3

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

  4. XM_054358792.1 → XP_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

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WVP7.1 GenPept UniProtKB/Swiss-Prot:Q8WVP7

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous