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LOXHD1 lipoxygenase homology PLAT domains 1 [ Homo sapiens (human) ]

Gene ID: 125336, updated on 6-Jun-2024

Summary

Official Symbol
LOXHD1provided by HGNC
Official Full Name
lipoxygenase homology PLAT domains 1provided by HGNC
Primary source
HGNC:HGNC:26521
See related
Ensembl:ENSG00000167210 MIM:613072; AllianceGenome:HGNC:26521
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
LH2D1; DFNB77
Summary
This gene encodes a highly conserved protein consisting entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains, thought to be involved in targeting proteins to the plasma membrane. Studies in mice show that this gene is expressed in the mechanosensory hair cells in the inner ear, and mutations in this gene lead to auditory defects, indicating that this gene is essential for normal hair cell function. Screening of human families segregating deafness identified a mutation in this gene which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL). Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]
Expression
Biased expression in testis (RPKM 2.9), bone marrow (RPKM 0.7) and 3 other tissues See more
Orthologs
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Genomic context

See LOXHD1 in Genome Data Viewer
Location:
18q21.1
Exon count:
52
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (46476961..46657220, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (46667522..46847775, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (44056924..44237183, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C Neighboring gene uncharacterized LOC105372095 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:43972627-43973160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:43991726-43992676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:43994577-43995525 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44004729-44005693 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44007521-44008096 Neighboring gene uncharacterized LOC124904293 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44015273-44015773 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44027257-44028040 Neighboring gene Sharpr-MPRA regulatory region 1203 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:44038097-44038886 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:44044737-44045236 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:44046140-44046972 Neighboring gene MPRA-validated peak3132 silencer Neighboring gene MPRA-validated peak3133 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44237431-44238380 Neighboring gene uncharacterized LOC105372096 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:44255923-44256770 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:44256771-44257616 Neighboring gene ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:44297037-44297823 Neighboring gene ribosomal protein S21 pseudogene 6

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

  • FLJ32670

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in sensory perception of sound IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in stereocilium IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in stereocilium ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
lipoxygenase homology domain-containing protein 1
Names
lipoxygenase homology domains 1

NCBI Reference Sequences (RefSeq)

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_016646.2 RefSeqGene

    Range
    4814..184761
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145472.3NP_001138944.1  lipoxygenase homology domain-containing protein 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) is missing many exons from the 5' end, contains an additional in-frame coding exon, and differs at the 5' and 3' ends compared to variant 1. This results in translation initiation from an in-frame downstream AUG, and a shorter isoform (2) with a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC018931, AK127869, BC041860, BG722402, BX647229
    Consensus CDS
    CCDS45861.1
    UniProtKB/TrEMBL
    J3KRE7
    Related
    ENSP00000300591.6, ENST00000300591.11
    Conserved Domains (2) summary
    cd01756
    Location:64184
    PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.
    cl00011
    Location:10431102
    PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...
  2. NM_001145473.3NP_001138945.1  lipoxygenase homology domain-containing protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001138945.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) is missing many exons from the 5' end, and contains an alternate 5' terminal exon compared to variant 1. This results in translation initiation from an in-frame downstream AUG, and a shorter isoform (3) compared to isoform 1.
    Source sequence(s)
    AK302484, BC041860, BC047720
    Consensus CDS
    CCDS45862.1
    UniProtKB/Swiss-Prot
    Q8IVV2
    UniProtKB/TrEMBL
    B7Z7T7
    Related
    ENSP00000381676.4, ENST00000398686.8
    Conserved Domains (2) summary
    cd01756
    Location:393511
    PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.
    cl00011
    Location:257358
    PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...
  3. NM_001173129.2NP_001166600.1  lipoxygenase homology domain-containing protein 1 isoform 4

    See identical proteins and their annotated locations for NP_001166600.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) is missing many exons from the 5' end, and differs at the 5' and 3' ends compared to variant 1. This results in translation initiation from an in-frame downstream AUG, and a shorter isoform (4) compared to isoform 1.
    Source sequence(s)
    AC018931, BC047720, BX647229
    Consensus CDS
    CCDS54184.1
    UniProtKB/Swiss-Prot
    Q8IVV2
    Related
    ENSP00000381692.2, ENST00000398705.7
    Conserved Domains (2) summary
    cd01756
    Location:124244
    PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.
    cl00011
    Location:393457
    PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...
  4. NM_001308013.2NP_001294942.1  lipoxygenase homology domain-containing protein 1 isoform 5

    See identical proteins and their annotated locations for NP_001294942.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) is missing many exons from the 5' end, lacks an in-frame coding exon, and differs at the 5' and 3' ends compared to variant 1. This results in translation initiation from an in-frame downstream AUG, and a shorter isoform (5) with a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC018931, BX647229
    Consensus CDS
    CCDS77182.1
    UniProtKB/TrEMBL
    J3KRE7, J3QKX9
    Related
    ENSP00000463285.1, ENST00000579038.6
    Conserved Domains (2) summary
    cd01756
    Location:253373
    PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.
    cl00011
    Location:388
    PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...
  5. NM_001384474.1NP_001371403.1  lipoxygenase homology domain-containing protein 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC018931, AC064800, AC091139
    Consensus CDS
    CCDS92455.1
    UniProtKB/Swiss-Prot
    B7WNN3, B7WNT1, B7WPI9, H7BZ41, Q6ZRY7, Q86WW9, Q8IVV2, Q96DL7
    UniProtKB/TrEMBL
    A0A2R8Y7K4
    Related
    ENSP00000496347.1, ENST00000642948.1
    Conserved Domains (2) summary
    cd01756
    Location:10221142
    PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.
    cl00011
    Location:816896
    PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...
  6. NM_144612.7NP_653213.6  lipoxygenase homology domain-containing protein 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC018931, AC064800, AC091139, AK127869, AK302484, BC041860, BX647229, DR731345, DR731346
    Consensus CDS
    CCDS11929.2
    UniProtKB/Swiss-Prot
    B7WNN3, B7WNT1, B7WPI9, H7BZ41, Q6ZRY7, Q86WW9, Q8IVV2, Q96DL7
    UniProtKB/TrEMBL
    F5GZB4
    Related
    ENSP00000444586.1, ENST00000536736.5
    Conserved Domains (2) summary
    cd01756
    Location:10221142
    PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.
    cl00011
    Location:816896
    PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...

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_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    46476961..46657220 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047437289.1XP_047293245.1  lipoxygenase homology domain-containing protein 1 isoform X1

    UniProtKB/Swiss-Prot
    B7WNN3, B7WNT1, B7WPI9, H7BZ41, Q6ZRY7, Q86WW9, Q8IVV2, Q96DL7
  2. XM_011525804.3XP_011524106.1  lipoxygenase homology domain-containing protein 1 isoform X5

    Conserved Domains (2) summary
    cd01756
    Location:409529
    PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.
    cl00011
    Location:203283
    PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...
  3. XM_006722391.4XP_006722454.1  lipoxygenase homology domain-containing protein 1 isoform X11

    UniProtKB/TrEMBL
    B7Z7T7
    Related
    ENSP00000461964.1, ENST00000582408.6
    Conserved Domains (2) summary
    cd01756
    Location:10251143
    PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.
    cl00011
    Location:675
    PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...
  4. XM_006722388.4XP_006722451.1  lipoxygenase homology domain-containing protein 1 isoform X8

    UniProtKB/TrEMBL
    B7Z7T7
    Conserved Domains (2) summary
    cd01756
    Location:10871205
    PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.
    cl00011
    Location:675
    PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...
  5. XM_024451088.2XP_024306856.1  lipoxygenase homology domain-containing protein 1 isoform X12

    UniProtKB/TrEMBL
    J3KRE7
    Conserved Domains (2) summary
    cd01756
    Location:9471065
    PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.
    cl00011
    Location:388
    PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...
  6. XM_024451086.2XP_024306854.1  lipoxygenase homology domain-containing protein 1 isoform X12

    UniProtKB/TrEMBL
    J3KRE7
    Conserved Domains (2) summary
    cd01756
    Location:9471065
    PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.
    cl00011
    Location:388
    PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...
  7. XM_024451085.2XP_024306853.1  lipoxygenase homology domain-containing protein 1 isoform X10

    UniProtKB/TrEMBL
    J3KRE7
    Conserved Domains (2) summary
    cd01756
    Location:10421160
    PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.
    cl00011
    Location:517632
    PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...
  8. XM_011525810.3XP_011524112.1  lipoxygenase homology domain-containing protein 1 isoform X13

    Conserved Domains (2) summary
    cd01756
    Location:410528
    PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.
    cl00011
    Location:274375
    PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...
  9. XM_011525811.3XP_011524113.1  lipoxygenase homology domain-containing protein 1 isoform X14

    See identical proteins and their annotated locations for XP_011524113.1

    UniProtKB/Swiss-Prot
    Q8IVV2
    Conserved Domains (2) summary
    cd01756
    Location:393511
    PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.
    cl00011
    Location:257358
    PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...
  10. XM_047437290.1XP_047293246.1  lipoxygenase homology domain-containing protein 1 isoform X2

  11. XM_047437291.1XP_047293247.1  lipoxygenase homology domain-containing protein 1 isoform X3

  12. XM_047437292.1XP_047293248.1  lipoxygenase homology domain-containing protein 1 isoform X4

  13. XM_047437293.1XP_047293249.1  lipoxygenase homology domain-containing protein 1 isoform X6

    Related
    ENST00000335730.6
  14. XM_047437295.1XP_047293251.1  lipoxygenase homology domain-containing protein 1 isoform X9

  15. XM_047437294.1XP_047293250.1  lipoxygenase homology domain-containing protein 1 isoform X7

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    46667522..46847775 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054318177.1XP_054174152.1  lipoxygenase homology domain-containing protein 1 isoform X16

    UniProtKB/Swiss-Prot
    B7WNN3, B7WNT1, B7WPI9, H7BZ41, Q6ZRY7, Q86WW9, Q8IVV2, Q96DL7
  2. XM_054318176.1XP_054174151.1  lipoxygenase homology domain-containing protein 1 isoform X15

    UniProtKB/Swiss-Prot
    B7WNN3, B7WNT1, B7WPI9, H7BZ41, Q6ZRY7, Q86WW9, Q8IVV2, Q96DL7
  3. XM_054318181.1XP_054174156.1  lipoxygenase homology domain-containing protein 1 isoform X5

  4. XM_054318187.1XP_054174162.1  lipoxygenase homology domain-containing protein 1 isoform X11

    UniProtKB/TrEMBL
    B7Z7T7
  5. XM_054318184.1XP_054174159.1  lipoxygenase homology domain-containing protein 1 isoform X8

    UniProtKB/TrEMBL
    B7Z7T7
  6. XM_054318189.1XP_054174164.1  lipoxygenase homology domain-containing protein 1 isoform X12

    UniProtKB/TrEMBL
    J3KRE7
  7. XM_054318188.1XP_054174163.1  lipoxygenase homology domain-containing protein 1 isoform X12

    UniProtKB/TrEMBL
    J3KRE7
  8. XM_054318186.1XP_054174161.1  lipoxygenase homology domain-containing protein 1 isoform X10

    UniProtKB/TrEMBL
    J3KRE7
  9. XM_054318190.1XP_054174165.1  lipoxygenase homology domain-containing protein 1 isoform X13

  10. XM_054318191.1XP_054174166.1  lipoxygenase homology domain-containing protein 1 isoform X14

  11. XM_054318178.1XP_054174153.1  lipoxygenase homology domain-containing protein 1 isoform X2

  12. XM_054318179.1XP_054174154.1  lipoxygenase homology domain-containing protein 1 isoform X3

  13. XM_054318180.1XP_054174155.1  lipoxygenase homology domain-containing protein 1 isoform X4

  14. XM_054318182.1XP_054174157.1  lipoxygenase homology domain-containing protein 1 isoform X6

  15. XM_054318185.1XP_054174160.1  lipoxygenase homology domain-containing protein 1 isoform X9

  16. XM_054318183.1XP_054174158.1  lipoxygenase homology domain-containing protein 1 isoform X7