Gene/Proteome Database (LMPD)
LMPD ID
LMP006800
Gene ID
Species
Homo sapiens (Human)
Gene Name
lipoxygenase homology domains 1
Gene Symbol
Synonyms
DFNB77; LH2D1
Chromosome
18
Map Location
18q21.1
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]
Orthologs
Proteins
| lipoxygenase homology domain-containing protein 1 isoform 1 | |
|---|---|
| Refseq ID | NP_653213 |
| Protein GI | 239050813 |
| UniProt ID | Q8IVV2 |
| mRNA ID | NM_144612 |
| Length | 2211 |
| RefSeq Status | REVIEWED |
| MMPQKKRRRKKDIDFLALYEAELLNYASEDDEGELEHEYYKARVYEVVTATGDVRGAGTDANVFITLFGENGLSPKLQLTSKSKSAFEKGNVDVFRVRTNNVGLIYKVRIEHDNTGLNASWYLDHVIVTDMKRPHLRYYFNCNNWLSKVEGDRQWCRDLLASFNPMDMPRGNKYEVKVYTGDVIGAGTDADVFINIFGEYGDTGERRLENEKDNFEKGAEDRFILDAPDLGQLMKINVGHNNKGGSAGWFLSQIVIEDIGNKRKYDFPLNRWLALDEDDGKIQRDILVGGAETTAITYIVTVFTGDVRGAGTKSKIYLVMYGARGNKNSGKIFLEGGVFDRGRTDIFHIELAVLLSPLSRVSVGHGNVGVNRGWFCEKVVILCPFTGIQQTFPCSNWLDEKKADGLIERQLYEMVSLRKKRLKKFPWSLWVWTTDLKKAGTNSPIFIQIYGQKGRTDEILLNPNNKWFKPGIIEKFRIELPDLGRFYKIRVWHDKRSSGSGWHLERMTLMNTLNKDKYNFNCNRWLDANEDDNEIVREMTAEGPTVRRIMGMARYHVTVCTGELEGAGTDANVYLCLFGDVGDTGERLLYNCRNNTDLFEKGNADEFTIESVTMRNVRRVRIRHDGKGSGSGWYLDRVLVREEGQPESDNVEFPCLRWLDKDKDDGQLVRELLPSDSSATLKNFRYHISLKTGDVSGASTDSRVYIKLYGDKSDTIKQVLLVSDNNLKDYFERGRVDEFTLETLNIGNINRLVIGHDSTGMHASWFLGSVQIRVPRQGKQYTFPANRWLDKNQADGRLEVELYPSEVVEIQKLVHYEVEIWTGDVGGAGTSARVYMQIYGEKGKTEVLFLSSRSKVFERASKDTFQLEAADVGEVYKLRLGHTGEGFGPSWFVDTVWLRHLVVREVDLTPEEEARKKKEKDKLRQLLKKERLKAKLQRKKKKRKGSDEEDEGEEEESSSSEESSSEEEEMEEEEEEEEFGPGMQEVIEQHKFEAHRWLARGKEDNELVVELVPAGKPGPERNTYEVQVVTGNVPKAGTDANVYLTIYGEEYGDTGERPLKKSDKSNKFEQGQTDTFTIYAIDLGALTKIRIRHDNTGNRAGWFLDRIDITDMNNEITYYFPCQRWLAVEEDDGQLSRELLPVDESYVLPQSEEGRGGGDNNPLDNLALEQKDKSTTFSVTIKTGVKKNAGTDANVFITLFGTQDDTGMTLLKSSKTNSDKFERDSIEIFTVETLDLGDLWKVRLGHDNTGKAPGWFVDWVEVDAPSLGKCMTFPCGRWLAKNEDDGSIIRDLFHAELQTRLYTPFVPYEITLYTSDVFAAGTDANIFIIIYGCDAVCTQQKYLCTNKREQKQFFERKSASRFIVELEDVGEIIEKIRIGHNNTGMNPGWHCSHVDIRRLLPDKDGAETLTFPCDRWLATSEDDKKTIRELVPYDIFTEKYMKDGSLRQVYKEVEEPLDIVLYSVQIFTGNIPGAGTDAKVYITIYGDLGDTGERYLGKSENRTNKFERGTADTFIIEAADLGVIYKIKLRHDNSKWCADWYVEKVEIWNDTNEDEFLFLCGRWLSLKKEDGRLERLFYEKEYTGDRSSNCSSPADFWEIALSSKMADVDISTVTGPMADYVQEGPIIPYYVSVTTGKHKDAATDSRAFIFLIGEDDERSKRIWLDYPRGKRGFSRGSVEEFYVAGLDVGIIKKIEVLYEMTVWTGDVVGGGTDSNIFMTLYGINGSTEEMQLDKKKARFEREQNDTFIMEILDIAPFTKMRIRIDGLGSRPEWFLERILLKNMNTGDLTMFYYGDWLSQRKGKKTLVCEMCAVIDEEEMMEWTSYTVAVKTSDILGAGTDANVFIIIFGENGDSGTLALKQSANWNKFERNNTDTFNFPDMLSLGHLCKLRVWHDNKGIFPGWHLSYVDVKDNSRDETFHFQCDCWLSKSEGDGQTVRDFACANNKICDELEETTYEIVIETGNGGETRENVWLILEGRKNRSKEFLMENSSRQRAFRKGTTDTFEFDSIYLGDIASLCVGHLAREDRFIPKRELAWHVKTITITEMEYGNVYFFNCDCLIPLKRKRKYFKVFEVTKTTESFASKVQSLVPVKYEVIVTTGYEPGAGTDANVFVTIFGANGDTGKRELKQKMRNLFERGSTDRFFLETLELGELRKVRLEHDSSGYCSGWLVEKVEVTNTSTGVATIFNCGRWLDKKRGDGLTWRDLFPSV | |
| lipoxygenase homology domain-containing protein 1 isoform 2 | |
|---|---|
| Refseq ID | NP_001138944 |
| Protein GI | 224458288 |
| UniProt ID | Q8IVV2 |
| mRNA ID | NM_001145472 |
| Length | 1114 |
| RefSeq Status | REVIEWED |
| MNNEITYYFPCQRWLAVEEDDGQLSRELLPVDESYVLPQSEEGRGGGDNNPLDNLALEQKDKSTTFSVTIKTGVKKNAGTDANVFITLFGTQDDTGMTLLKSSKTNSDKFERDSIEIFTVETLDLGDLWKVRLGHDNTGKAPGWFVDWVEVDAPSLGKCMTFPCGRWLAKNEDDGSIIRDLFHAELQTRLYTPFVPYEITLYTSDVFAAGTDANIFIIIYGCDAVCTQQKYLCTNKREQKQFFERKSASRFIVELEDVGEIIEKIRIGHNNTGMNPGWHCSHVDIRRLLPDKDGAETLTFPCDRWLATSEDDKKTIRELVPYDIFTEKYMKDGSLRQVYKEVEEPLDIVLYSVQIFTGNIPGAGTDAKVYITIYGDLGDTGERYLGKSENRTNKFERGTADTFIIEAADLGVIYKIKLRHDNSKWCADWYVEKVEIWNDTNEDEFLFLCGRWLSLKKEDGRLERLFYEKEYTGDRSSNCSSPADFWEIALSSKMADVDISTVTGPMADYVQEGPIIPYYVSVTTGKHKDAATDSRAFIFLIGEDDERSKRIWLDYPRGKRGFSRGSVEEFYVAGLDVGIIKKIELGHDGASPESCWLVEELCLAVPTQGTKYMLNCNCWLAKDRGDGITSRVFDLLDAMVVNIGVKVLYEMTVWTGDVVGGGTDSNIFMTLYGINGSTEEMQLDKKKARFEREQNDTFIMEILDIAPFTKMRIRIDGLGSRPEWFLERILLKNMNTGDLTMFYYGDWLSQRKGKKTLVCEMCAVIDEEEMMEWTSYTVAVKTSDILGAGTDANVFIIIFGENGDSGTLALKQSANWNKFERNNTDTFNFPDMLSLGHLCKLRVWHDNKGIFPGWHLSYVDVKDNSRDETFHFQCDCWLSKSEGDGQTVRDFACANNKICDELEETTYEIVIETGNGGETRENVWLILEGRKNRSKEFLMENSSRQRAFRKGTTDTFEFDSIYLGDIASLCVGHLAREDRFIPKRELAWHVKTITITEMEYGNVYFFNCDCLIPLKRKRKYFKVFEVTKTTESFASKVQSLVPVKYEVIVTTGYEPGAGTDANVFVTIFGANGDTGKRELKQKMRNLFERGSTDRFFLETLELVVTRLGLAAECG | |
| lipoxygenase homology domain-containing protein 1 isoform 3 | |
|---|---|
| Refseq ID | NP_001138945 |
| Protein GI | 224458290 |
| UniProt ID | Q8IVV2 |
| mRNA ID | NM_001145473 |
| Length | 512 |
| RefSeq Status | REVIEWED |
| MTVWTGDVVGGGTDSNIFMTLYGINGSTEEMQLDKKKARFEREQNDTFIMEILDIAPFTKMRIRIDGLGSRPEWFLERILLKNMNTGDLTMFYYGDWLSQRKGKKTLVCEMCAVIDEEEMMEWTSYTVAVKTSDILGAGTDANVFIIIFGENGDSGTLALKQSANWNKFERNNTDTFNFPDMLSLGHLCKLRVWHDNKGIFPGWHLSYVDVKDNSRDETFHFQCDCWLSKSEGDGQTVRDFACANNKICDELEETTYEIVIETGNGGETRENVWLILEGRKNRSKEFLMENSSRQRAFRKGTTDTFEFDSIYLGDIASLCVGHLAREDRFIPKRELAWHVKTITITEMEYGNVYFFNCDCLIPLKRKRKYFKVFEVTKTTESFASKVQSLVPVKYEVIVTTGYEPGAGTDANVFVTIFGANGDTGKRELKQKMRNLFERGSTDRFFLETLELGELRKVRLEHDSSGYCSGWLVEKVEVTNTSTGVATIFNCGRWLDKKRGDGLTWRDLFPSV | |
| lipoxygenase homology domain-containing protein 1 isoform 4 | |
|---|---|
| Refseq ID | NP_001166600 |
| Protein GI | 290542348 |
| UniProt ID | Q8IVV2 |
| mRNA ID | NM_001173129 |
| Length | 457 |
| RefSeq Status | REVIEWED |
| MTVWTGDVVGGGTDSNIFMTLYGINGSTEEMQLDKKKARFEREQNDTFIMEILDIAPFTKMRIRIDGLGSRPEWFLERILLKNMNTGDLTMFYYGDWLSQRKGKKTLVCEMCAVIDEEEMMEWTSYTVAVKTSDILGAGTDANVFIIIFGENGDSGTLALKQSANWNKFERNNTDTFNFPDMLSLGHLCKLRVWHDNKGIFPGWHLSYVDVKDNSRDETFHFQCDCWLSKSEGDGQTVRDFACANNKICDELEETTYEIVIETGNGGETRENVWLILEGRKNRSKEFLMENSSRQRAFRKGTTDTFEFDSIYLGDIASLCVGHLAREDRFIPKRELAWHVKTITITEMEYGNVYFFNCDCLIPLKRKRKYFKVFEVTKTTESFASKVQSLVPVKYEVIVTTGYEPGAGTDANVFVTIFGANGDTGKRELKQKMRNLFERGSTDRFFLETLELGELRK | |
Gene Information
Entrez Gene ID
Gene Name
lipoxygenase homology domains 1
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0016020 | IBA:RefGenome | C | membrane |
| GO:0032420 | ISS:UniProtKB | C | stereocilium |
| GO:0005262 | IBA:RefGenome | F | calcium channel activity |
| GO:0070588 | IBA:GOC | P | calcium ion transmembrane transport |
| GO:0050982 | IBA:RefGenome | P | detection of mechanical stimulus |
| GO:0007605 | IMP:UniProtKB | P | sensory perception of sound |
Domain Information
UniProt Annotations
Entry Information
Comments
| Comment Type | Description |
|---|---|
| Alternative Products | Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q8IVV2-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=3; IsoId=Q8IVV2-3; Sequence=VSP_028948; Name=4; IsoId=Q8IVV2-4; Sequence=VSP_028947, VSP_028951; Note=No experimental confirmation available.; Name=5; IsoId=Q8IVV2-5; Sequence=VSP_028947, VSP_028952; Note=No experimental confirmation available.; |
| Disease | Deafness, autosomal recessive, 77 (DFNB77) [MIM |
| Function | Involved in hearing. Required for normal function of hair cells in the inner ear (By similarity). |
| Similarity | Contains 14 PLAT domains. {ECO |
| Subcellular Location | Cell projection, stereocilium . |
Identical and Related Proteins
Unique RefSeq proteins for LMP006800 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 239050813 | RefSeq | NP_653213 | 2211 | lipoxygenase homology domain-containing protein 1 isoform 1 |
| 224458288 | RefSeq | NP_001138944 | 1114 | lipoxygenase homology domain-containing protein 1 isoform 2 |
| 224458290 | RefSeq | NP_001138945 | 512 | lipoxygenase homology domain-containing protein 1 isoform 3 |
| 290542348 | RefSeq | NP_001166600 | 457 | lipoxygenase homology domain-containing protein 1 isoform 4 |
Identical Sequences to LMP006800 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:224458290 | GenBank | EAX01479.1 | 512 | lipoxygenase homology domains 1, isoform CRA_c [Homo sapiens] |
| GI:290542348 | GenBank | EAX01480.1 | 457 | lipoxygenase homology domains 1, isoform CRA_d [Homo sapiens] |
Related Sequences to LMP006800 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:224458288 | GenBank | AAH41860.1 | 1114 | LOXHD1 protein [Homo sapiens] |
| GI:224458288 | GenBank | EAX01477.1 | 1114 | lipoxygenase homology domains 1, isoform CRA_a [Homo sapiens] |
| GI:290542348 | GenBank | EAX01478.1 | 1011 | lipoxygenase homology domains 1, isoform CRA_b [Homo sapiens] |
| GI:290542348 | GenBank | EAX01479.1 | 512 | lipoxygenase homology domains 1, isoform CRA_c [Homo sapiens] |
| GI:290542348 | RefSeq | NP_001138945.1 | 512 | lipoxygenase homology domain-containing protein 1 isoform 3 [Homo sapiens] |
| GI:290542348 | RefSeq | NP_653213.6 | 2211 | lipoxygenase homology domain-containing protein 1 isoform 1 [Homo sapiens] |
| GI:224458290 | RefSeq | NP_653213.6 | 2211 | lipoxygenase homology domain-containing protein 1 isoform 1 [Homo sapiens] |
| GI:239050813 | RefSeq | XP_001090494.2 | 2215 | PREDICTED: hypothetical protein LOC702221 [Macaca mulatta] |
| GI:239050813 | RefSeq | XP_003924741.1 | 2215 | PREDICTED: lipoxygenase homology domain-containing protein 1 isoform X1 [Saimiri boliviensis boliviensis] |
| GI:224458288 | RefSeq | XP_004059419.1 | 1114 | PREDICTED: lipoxygenase homology domain-containing protein 1 isoform 3 [Gorilla gorilla gorilla] |
| GI:239050813 | RefSeq | XP_004059420.1 | 2213 | PREDICTED: lipoxygenase homology domain-containing protein 1 isoform 4 [Gorilla gorilla gorilla] |
| GI:239050813 | RefSeq | XP_005586837.1 | 2214 | PREDICTED: lipoxygenase homology domain-containing protein 1 isoform X1 [Macaca fascicularis] |
| GI:290542348 | RefSeq | XP_006722447.1 | 1933 | PREDICTED: lipoxygenase homology domain-containing protein 1 isoform X1 [Homo sapiens] |
| GI:224458290 | RefSeq | XP_006722447.1 | 1933 | PREDICTED: lipoxygenase homology domain-containing protein 1 isoform X1 [Homo sapiens] |
| GI:224458288 | RefSeq | XP_006722448.1 | 1304 | PREDICTED: lipoxygenase homology domain-containing protein 1 isoform X2 [Homo sapiens] |
| GI:224458290 | RefSeq | XP_006722448.1 | 1304 | PREDICTED: lipoxygenase homology domain-containing protein 1 isoform X2 [Homo sapiens] |
| GI:290542348 | RefSeq | XP_006722448.1 | 1304 | PREDICTED: lipoxygenase homology domain-containing protein 1 isoform X2 [Homo sapiens] |
| GI:224458288 | RefSeq | XP_006722449.1 | 1256 | PREDICTED: lipoxygenase homology domain-containing protein 1 isoform X3 [Homo sapiens] |
| GI:224458290 | RefSeq | XP_006722451.1 | 1206 | PREDICTED: lipoxygenase homology domain-containing protein 1 isoform X5 [Homo sapiens] |
| GI:224458290 | RefSeq | XP_006722452.1 | 1162 | PREDICTED: lipoxygenase homology domain-containing protein 1 isoform X6 [Homo sapiens] |
| GI:224458290 | RefSeq | XP_006722453.1 | 1162 | PREDICTED: lipoxygenase homology domain-containing protein 1 isoform X7 [Homo sapiens] |
| GI:239050813 | RefSeq | XP_009432217.1 | 2192 | PREDICTED: lipoxygenase homology domain-containing protein 1 [Pan troglodytes] |
| GI:239050813 | RefSeq | XP_010385117.1 | 2212 | PREDICTED: lipoxygenase homology domain-containing protein 1 isoform X1 [Rhinopithecus roxellana] |
| GI:224458288 | SwissProt | Q8IVV2.3 | 1947 | RecName: Full=Lipoxygenase homology domain-containing protein 1 [Homo sapiens] |