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Protein

Lipoxygenase homology domain-containing protein 1

Gene

LOXHD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

Involved in hearing. Required for normal function of hair cells in the inner ear (By similarity).By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

  • detection of mechanical stimulus Source: GO_Central
  • sensory perception of sound Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Hearing

Names & Taxonomyi

Protein namesi
Recommended name:
Lipoxygenase homology domain-containing protein 1
Gene namesi
Name:LOXHD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:26521. LOXHD1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell projection

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 77 (DFNB77)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic deafness characterized by preserved low-frequency hearing, and a trend toward mild to moderate mid-frequency and high-frequency hearing loss during childhood and adolescence. Hearing loss progresses to become moderate to severe at mid and high frequencies during adulthood.
See also OMIM:613079

Keywords - Diseasei

Deafness, Non-syndromic deafness

Organism-specific databases

MalaCardsiLOXHD1.
MIMi613079. phenotype.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA134878065.

Polymorphism and mutation databases

BioMutaiLOXHD1.
DMDMi294862503.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 19471947Lipoxygenase homology domain-containing protein 1PRO_0000308256Add
BLAST

Proteomic databases

EPDiQ8IVV2.
PaxDbiQ8IVV2.
PeptideAtlasiQ8IVV2.
PRIDEiQ8IVV2.

PTM databases

iPTMnetiQ8IVV2.
PhosphoSiteiQ8IVV2.

Expressioni

Gene expression databases

BgeeiQ8IVV2.
CleanExiHS_LOXHD1.
ExpressionAtlasiQ8IVV2. baseline and differential.
GenevisibleiQ8IVV2. HS.

Organism-specific databases

HPAiHPA042982.

Interactioni

Protein-protein interaction databases

BioGridi125926. 1 interaction.
STRINGi9606.ENSP00000300591.

Structurei

3D structure databases

ProteinModelPortaliQ8IVV2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini18 – 134117PLAT 1PROSITE-ProRule annotationAdd
BLAST
Domaini147 – 262116PLAT 2PROSITE-ProRule annotationAdd
BLAST
Domaini275 – 395121PLAT 3PROSITE-ProRule annotationAdd
BLAST
Domaini406 – 525120PLAT 4PROSITE-ProRule annotationAdd
BLAST
Domaini536 – 650115PLAT 5PROSITE-ProRule annotationAdd
BLAST
Domaini744 – 862119PLAT 6PROSITE-ProRule annotationAdd
BLAST
Domaini897 – 1015119PLAT 7PROSITE-ProRule annotationAdd
BLAST
Domaini1028 – 1153126PLAT 8PROSITE-ProRule annotationAdd
BLAST
Domaini1182 – 1300119PLAT 9PROSITE-ProRule annotationAdd
BLAST
Domaini1349 – 1467119PLAT 10PROSITE-ProRule annotationAdd
BLAST
Domaini1480 – 1595116PLAT 11PROSITE-ProRule annotationAdd
BLAST
Domaini1607 – 1725119PLAT 12PROSITE-ProRule annotationAdd
BLAST
Domaini1738 – 1859122PLAT 13PROSITE-ProRule annotationAdd
BLAST
Domaini1876 – 194772PLAT 14PROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi670 – 73263Glu-richAdd
BLAST

Sequence similaritiesi

Contains 14 PLAT domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IJEB. Eukaryota.
ENOG410XTDU. LUCA.
GeneTreeiENSGT00390000018830.
HOVERGENiHBG108091.
InParanoidiQ8IVV2.
OrthoDBiEOG7JDQWN.
PhylomeDBiQ8IVV2.
TreeFamiTF350466.

Family and domain databases

Gene3Di2.60.60.20. 15 hits.
InterProiIPR033033. LOXHD1.
IPR001024. PLAT/LH2_dom.
[Graphical view]
PANTHERiPTHR10877:SF137. PTHR10877:SF137. 1 hit.
PfamiPF01477. PLAT. 14 hits.
[Graphical view]
SMARTiSM00308. LH2. 9 hits.
[Graphical view]
SUPFAMiSSF49723. SSF49723. 14 hits.
PROSITEiPS50095. PLAT. 14 hits.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IVV2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MMQLTLNTLF PVVSTPAITY IVTVFTGDVR GAGTKSKIYL VMYGARGNKN
60 70 80 90 100
SGKIFLEGGV FDRGRTDIFH IELAVLLSPL SRVSVGHGNV GVNRGWFCEK
110 120 130 140 150
VVILCPFTGI QQTFPCSNWL DEKKADGLIE RQLYEMVSLR KKRLKKFPWS
160 170 180 190 200
LWVWTTDLKK AGTNSPIFIQ IYGQKGRTDE ILLNPNNKWF KPGIIEKFRI
210 220 230 240 250
ELPDLGRFYK IRVWHDKRSS GSGWHLERMT LMNTLNKDKY NFNCNRWLDA
260 270 280 290 300
NEDDNEIVRE MTAEGPTVRR IMGMARYHVT VCTGELEGAG TDANVYLCLF
310 320 330 340 350
GDVGDTGERL LYNCRNNTDL FEKGNADEFT IESVTMRNVR RVRIRHDGKG
360 370 380 390 400
SGSGWYLDRV LVREEGQPES DNVEFPCLRW LDKDKDDGQL VRELLPSDSS
410 420 430 440 450
ATLKNFRYHI SLKTGDVSGA STDSRVYIKL YGDKSDTIKQ VLLVSDNNLK
460 470 480 490 500
DYFERGRVDE FTLETLNIGN INRLVIGHDS TGMHASWFLG SVQIRVPRQG
510 520 530 540 550
KQYTFPANRW LDKNQADGRL EVELYPSEVV EIQKLVHYEV EIWTGDVGGA
560 570 580 590 600
GTSARVYMQI YGEKGKTEVL FLSSRSKVFE RASKDTFQLE AADVGEVYKL
610 620 630 640 650
RLGHTGEGFG PSWFVDTVWL RHLVVREVDL TPEEEARKKK EKDKLRQLLK
660 670 680 690 700
KERLKAKLQR KKKKRKGSDE EDEGEEEESS SSEESSSEEE EMEEEEEEEE
710 720 730 740 750
FGPGMQEVIE QHKFEAHRWL ARGKEDNELV VELVPAGKPG PERNTYEVQV
760 770 780 790 800
VTGNVPKAGT DANVYLTIYG EEYGDTGERP LKKSDKSNKF EQGQTDTFTI
810 820 830 840 850
YAIDLGALTK IRIRHDNTGN RAGWFLDRID ITDMNNEITY YFPCQRWLAV
860 870 880 890 900
EEDDGQLSRE LLPVDESYVL PQSEEGRGGG DNNPLDNLAL EQKDKSTTFS
910 920 930 940 950
VTIKTGVKKN AGTDANVFIT LFGTQDDTGM TLLKSSKTNS DKFERDSIEI
960 970 980 990 1000
FTVETLDLGD LWKVRLGHDN TGKAPGWFVD WVEVDAPSLG KCMTFPCGRW
1010 1020 1030 1040 1050
LAKNEDDGSI IRDLFHAELQ TRLYTPFVPY EITLYTSDVF AAGTDANIFI
1060 1070 1080 1090 1100
IIYGCDAVCT QQKYLCTNKR EQKQFFERKS ASRFIVELED VGEIIEKIRI
1110 1120 1130 1140 1150
GHNNTGMNPG WHCSHVDIRR LLPDKDGAET LTFPCDRWLA TSEDDKKTIR
1160 1170 1180 1190 1200
ELVPYDIFTE KYMKDGSLRQ VYKEVEEPLD IVLYSVQIFT GNIPGAGTDA
1210 1220 1230 1240 1250
KVYITIYGDL GDTGERYLGK SENRTNKFER GTADTFIIEA ADLGVIYKIK
1260 1270 1280 1290 1300
LRHDNSKWCA DWYVEKVEIW NDTNEDEFLF LCGRWLSLKK EDGRLERLFY
1310 1320 1330 1340 1350
EKEYTGDRSS NCSSPADFWE IALSSKMADV DISTVTGPMA DYVQEGPIIP
1360 1370 1380 1390 1400
YYVSVTTGKH KDAATDSRAF IFLIGEDDER SKRIWLDYPR GKRGFSRGSV
1410 1420 1430 1440 1450
EEFYVAGLDV GIIKKIELGH DGASPESCWL VEELCLAVPT QGTKYMLNCN
1460 1470 1480 1490 1500
CWLAKDRGDG ITSRVFDLLD AMVVNIGVKV LYEMTVWTGD VVGGGTDSNI
1510 1520 1530 1540 1550
FMTLYGINGS TEEMQLDKKK ARFEREQNDT FIMEILDIAP FTKMRIRIDG
1560 1570 1580 1590 1600
LGSRPEWFLE RILLKNMNTG DLTMFYYGDW LSQRKGKKTL VCEMCAVIDE
1610 1620 1630 1640 1650
EEMMEWTSYT VAVKTSDILG AGTDANVFII IFGENGDSGT LALKQSANWN
1660 1670 1680 1690 1700
KFERNNTDTF NFPDMLSLGH LCKLRVWHDN KGIFPGWHLS YVDVKDNSRD
1710 1720 1730 1740 1750
ETFHFQCDCW LSKSEGDGQT VRDFACANNK ICDELEETTY EIVIETGNGG
1760 1770 1780 1790 1800
ETRENVWLIL EGRKNRSKEF LMENSSRQRA FRKGTTDTFE FDSIYLGDIA
1810 1820 1830 1840 1850
SLCVGHLARE DRFIPKRELA WHVKTITITE MEYGNVYFFN CDCLIPLKRK
1860 1870 1880 1890 1900
RKYFKVFEVT KTTESFASKV QSLVPVKYEV IVTTGYEPGA GTDANVFVTI
1910 1920 1930 1940
FGANGDTGKR ELKQKMRNLF ERGSTDRFFL ETLELVVTRL GLAAECG
Note: No experimental confirmation available.
Length:1,947
Mass (Da):221,947
Last modified:April 20, 2010 - v3
Checksum:iDC988D866337C4C5
GO
Isoform 3 (identifier: Q8IVV2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-833: Missing.

Show »
Length:1,114
Mass (Da):126,797
Checksum:iAA71C8C53F3A40AB
GO
Isoform 4 (identifier: Q8IVV2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1483: Missing.
     1936-1947: VVTRLGLAAECG → GELRK

Note: No experimental confirmation available.
Show »
Length:457
Mass (Da):52,506
Checksum:iDF9E3C823BB92883
GO
Isoform 5 (identifier: Q8IVV2-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1483: Missing.
     1936-1947: VVTRLGLAAECG → GELRKVRLEHDSSGYCSGWLVEKVEVTNTSTGVATIFNCGRWLDKKRGDGLTWRDLFPSV

Note: No experimental confirmation available.
Show »
Length:512
Mass (Da):58,676
Checksum:iD462A9F373D68CB0
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti877 – 8771R → G in AAH41860 (PubMed:15489334).Curated
Sequence conflicti968 – 9681H → N in AAH41860 (PubMed:15489334).Curated
Sequence conflicti1149 – 11491I → V in AAH41860 (PubMed:15489334).Curated
Sequence conflicti1820 – 18201A → V in AAH47720 (PubMed:15489334).Curated
Sequence conflicti1838 – 18381F → L in BAB71390 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti85 – 851V → I.
Corresponds to variant rs10163657 [ dbSNP | Ensembl ].
VAR_056923
Natural varianti348 – 3481G → C.
Corresponds to variant rs34589386 [ dbSNP | Ensembl ].
VAR_056924
Natural varianti354 – 3541G → C.
Corresponds to variant rs35088381 [ dbSNP | Ensembl ].
VAR_056925
Natural varianti398 – 3981D → G.
Corresponds to variant rs16978578 [ dbSNP | Ensembl ].
VAR_056926
Natural varianti547 – 5471V → M.
Corresponds to variant rs36086089 [ dbSNP | Ensembl ].
VAR_056927
Natural varianti1105 – 11051T → M.
Corresponds to variant rs7244681 [ dbSNP | Ensembl ].
VAR_056928
Natural varianti1345 – 13451E → G.
Corresponds to variant rs12606417 [ dbSNP | Ensembl ].
VAR_056929

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 14831483Missing in isoform 4 and isoform 5. 2 PublicationsVSP_028947Add
BLAST
Alternative sequencei1 – 833833Missing in isoform 3. 1 PublicationVSP_028948Add
BLAST
Alternative sequencei1936 – 194712VVTRL…AAECG → GELRK in isoform 4. 1 PublicationVSP_028951Add
BLAST
Alternative sequencei1936 – 194712VVTRL…AAECG → GELRKVRLEHDSSGYCSGWL VEKVEVTNTSTGVATIFNCG RWLDKKRGDGLTWRDLFPSV in isoform 5. 1 PublicationVSP_028952Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057232 mRNA. Translation: BAB71390.1.
AK127869 mRNA. No translation available.
AC018931 Genomic DNA. No translation available.
AC064800 Genomic DNA. No translation available.
AC091139 Genomic DNA. No translation available.
CH471088 Genomic DNA. Translation: EAX01479.1.
CH471088 Genomic DNA. Translation: EAX01480.1.
BC041860 mRNA. Translation: AAH41860.1.
BC047720 mRNA. Translation: AAH47720.1.
CCDSiCCDS45861.1. [Q8IVV2-3]
CCDS45862.1. [Q8IVV2-5]
CCDS54184.1. [Q8IVV2-4]
RefSeqiNP_001138944.1. NM_001145472.2. [Q8IVV2-3]
NP_001138945.1. NM_001145473.2. [Q8IVV2-5]
NP_001166600.1. NM_001173129.1. [Q8IVV2-4]
NP_653213.6. NM_144612.6.
XP_011524113.1. XM_011525811.1. [Q8IVV2-5]
UniGeneiHs.345877.

Genome annotation databases

EnsembliENST00000300591; ENSP00000300591; ENSG00000167210. [Q8IVV2-3]
ENST00000398686; ENSP00000381676; ENSG00000167210. [Q8IVV2-5]
ENST00000398705; ENSP00000381692; ENSG00000167210. [Q8IVV2-4]
GeneIDi125336.
KEGGihsa:125336.
UCSCiuc002lcd.5. human. [Q8IVV2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057232 mRNA. Translation: BAB71390.1.
AK127869 mRNA. No translation available.
AC018931 Genomic DNA. No translation available.
AC064800 Genomic DNA. No translation available.
AC091139 Genomic DNA. No translation available.
CH471088 Genomic DNA. Translation: EAX01479.1.
CH471088 Genomic DNA. Translation: EAX01480.1.
BC041860 mRNA. Translation: AAH41860.1.
BC047720 mRNA. Translation: AAH47720.1.
CCDSiCCDS45861.1. [Q8IVV2-3]
CCDS45862.1. [Q8IVV2-5]
CCDS54184.1. [Q8IVV2-4]
RefSeqiNP_001138944.1. NM_001145472.2. [Q8IVV2-3]
NP_001138945.1. NM_001145473.2. [Q8IVV2-5]
NP_001166600.1. NM_001173129.1. [Q8IVV2-4]
NP_653213.6. NM_144612.6.
XP_011524113.1. XM_011525811.1. [Q8IVV2-5]
UniGeneiHs.345877.

3D structure databases

ProteinModelPortaliQ8IVV2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125926. 1 interaction.
STRINGi9606.ENSP00000300591.

PTM databases

iPTMnetiQ8IVV2.
PhosphoSiteiQ8IVV2.

Polymorphism and mutation databases

BioMutaiLOXHD1.
DMDMi294862503.

Proteomic databases

EPDiQ8IVV2.
PaxDbiQ8IVV2.
PeptideAtlasiQ8IVV2.
PRIDEiQ8IVV2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000300591; ENSP00000300591; ENSG00000167210. [Q8IVV2-3]
ENST00000398686; ENSP00000381676; ENSG00000167210. [Q8IVV2-5]
ENST00000398705; ENSP00000381692; ENSG00000167210. [Q8IVV2-4]
GeneIDi125336.
KEGGihsa:125336.
UCSCiuc002lcd.5. human. [Q8IVV2-1]

Organism-specific databases

CTDi125336.
GeneCardsiLOXHD1.
GeneReviewsiLOXHD1.
HGNCiHGNC:26521. LOXHD1.
HPAiHPA042982.
MalaCardsiLOXHD1.
MIMi613072. gene.
613079. phenotype.
neXtProtiNX_Q8IVV2.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA134878065.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJEB. Eukaryota.
ENOG410XTDU. LUCA.
GeneTreeiENSGT00390000018830.
HOVERGENiHBG108091.
InParanoidiQ8IVV2.
OrthoDBiEOG7JDQWN.
PhylomeDBiQ8IVV2.
TreeFamiTF350466.

Miscellaneous databases

ChiTaRSiLOXHD1. human.
GeneWikiiLOXHD1.
GenomeRNAii125336.
PROiQ8IVV2.
SOURCEiSearch...

Gene expression databases

BgeeiQ8IVV2.
CleanExiHS_LOXHD1.
ExpressionAtlasiQ8IVV2. baseline and differential.
GenevisibleiQ8IVV2. HS.

Family and domain databases

Gene3Di2.60.60.20. 15 hits.
InterProiIPR033033. LOXHD1.
IPR001024. PLAT/LH2_dom.
[Graphical view]
PANTHERiPTHR10877:SF137. PTHR10877:SF137. 1 hit.
PfamiPF01477. PLAT. 14 hits.
[Graphical view]
SMARTiSM00308. LH2. 9 hits.
[Graphical view]
SUPFAMiSSF49723. SSF49723. 14 hits.
PROSITEiPS50095. PLAT. 14 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5).
    Tissue: Testis.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4).
    Tissue: Brain and Testis.
  5. "Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans."
    Grillet N., Schwander M., Hildebrand M.S., Sczaniecka A., Kolatkar A., Velasco J., Webster J.A., Kahrizi K., Najmabadi H., Kimberling W.J., Stephan D., Bahlo M., Wiltshire T., Tarantino L.M., Kuhn P., Smith R.J.H., Mueller U.
    Am. J. Hum. Genet. 85:328-337(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN DFNB77, FUNCTION.

Entry informationi

Entry nameiLOXH1_HUMAN
AccessioniPrimary (citable) accession number: Q8IVV2
Secondary accession number(s): B7WNN3
, B7WNT1, B7WPI9, Q6ZRY7, Q86WW9, Q96DL7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: April 20, 2010
Last modified: July 6, 2016
This is version 110 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.