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Protein

Lipoxygenase homology domain-containing protein 1

Gene

LOXHD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • sensory perception of sound Source: UniProtKB

Keywordsi

Biological processHearing

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

EuPathDBiHostDB:ENSG00000167210.16
HGNCiHGNC:26521 LOXHD1
MIMi613072 gene
neXtProtiNX_Q8IVV2

Subcellular locationi

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

DisGeNETi125336
GeneReviewsiLOXHD1
MalaCardsiLOXHD1
MIMi613079 phenotype
OpenTargetsiENSG00000167210
Orphaneti90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
PharmGKBiPA134878065

Polymorphism and mutation databases

BioMutaiLOXHD1
DMDMi294862503

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003082561 – 2067Lipoxygenase homology domain-containing protein 1Add BLAST2067

Proteomic databases

PaxDbiQ8IVV2
PeptideAtlasiQ8IVV2
PRIDEiQ8IVV2
ProteomicsDBi70774
70775 [Q8IVV2-3]
70776 [Q8IVV2-4]
70777 [Q8IVV2-5]

PTM databases

CarbonylDBiQ8IVV2
iPTMnetiQ8IVV2
PhosphoSitePlusiQ8IVV2

Expressioni

Gene expression databases

BgeeiENSG00000167210 Expressed in 69 organ(s), highest expression level in testis
CleanExiHS_LOXHD1
ExpressionAtlasiQ8IVV2 baseline and differential
GenevisibleiQ8IVV2 HS

Interactioni

Protein-protein interaction databases

BioGridi125926, 2 interactors
STRINGi9606.ENSP00000300591

Structurei

3D structure databases

ProteinModelPortaliQ8IVV2
SMRiQ8IVV2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini43 – 160PLAT 1PROSITE-ProRule annotationAdd BLAST118
Domaini172 – 287PLAT 2PROSITE-ProRule annotationAdd BLAST116
Domaini296 – 412PLAT 3PROSITE-ProRule annotationAdd BLAST117
Domaini425 – 540PLAT 4PROSITE-ProRule annotationAdd BLAST116
Domaini553 – 673PLAT 5PROSITE-ProRule annotationAdd BLAST121
Domaini684 – 803PLAT 6PROSITE-ProRule annotationAdd BLAST120
Domaini814 – 934PLAT 7PROSITE-ProRule annotationAdd BLAST121
Domaini969 – 1087PLAT 8PROSITE-ProRule annotationAdd BLAST119
Domaini1100 – 1225PLAT 9PROSITE-ProRule annotationAdd BLAST126
Domaini1254 – 1372PLAT 10PROSITE-ProRule annotationAdd BLAST119
Domaini1421 – 1539PLAT 11PROSITE-ProRule annotationAdd BLAST119
Domaini1552 – 1667PLAT 12PROSITE-ProRule annotationAdd BLAST116
Domaini1679 – 1797PLAT 13PROSITE-ProRule annotationAdd BLAST119
Domaini1810 – 1931PLAT 14PROSITE-ProRule annotationAdd BLAST122
Domaini1948 – 2064PLAT 15PROSITE-ProRule annotationAdd BLAST117

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IJEB Eukaryota
ENOG410XTDU LUCA
GeneTreeiENSGT00390000018830
HOVERGENiHBG108091
InParanoidiQ8IVV2
PhylomeDBiQ8IVV2
TreeFamiTF350466

Family and domain databases

Gene3Di2.40.180.10, 12 hits
InterProiView protein in InterPro
IPR037060 Catalase_core_sf
IPR001024 PLAT/LH2_dom
IPR036392 PLAT/LH2_dom_sf
PfamiView protein in Pfam
PF01477 PLAT, 15 hits
SMARTiView protein in SMART
SM00308 LH2, 12 hits
SUPFAMiSSF49723 SSF49723, 15 hits
PROSITEiView protein in PROSITE
PS50095 PLAT, 15 hits

Sequences (4+)i

Sequence statusi: Complete.

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

This entry has 4 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

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
MMPQKKRRRK KDIDFLALYE AELLNYASED DEGELEHEYY KARVYEVVTA
60 70 80 90 100
TGDVRGAGTD ANVFITLFGE NGLSPKLQLT SKSKSAFEKG NVDVFRVRTN
110 120 130 140 150
NVGLIYKVRI EHDNTGLNAS WYLDHVIVTD MKRPHLRYYF NCNNWLSKVE
160 170 180 190 200
GDRQWCRDLL ASFNPMDMPR GNKYEVKVYT GDVIGAGTDA DVFINIFGEY
210 220 230 240 250
GDTGERRLEN EKDNFEKGAE DRFILDAPDL GQLMKINVGH NNKGGSAGWF
260 270 280 290 300
LSQIVIEDIG NKRKYDFPLN RWLALDEDDG KIQRDILVGG AETTAITYIV
310 320 330 340 350
TVFTGDVRGA GTKSKIYLVM YGARGNKNSG KIFLEGGVFD RGRTDIFHIE
360 370 380 390 400
LAVLLSPLSR VSVGHGNVGV NRGWFCEKVV ILCPFTGIQQ TFPCSNWLDE
410 420 430 440 450
KKADGLIERQ LYEMVSLRKK RLKKFPWSLW VWTTDLKKAG TNSPIFIQIY
460 470 480 490 500
GQKGRTDEIL LNPNNKWFKP GIIEKFRIEL PDLGRFYKIR VWHDKRSSGS
510 520 530 540 550
GWHLERMTLM NTLNKDKYNF NCNRWLDANE DDNEIVREMT AEGPTVRRIM
560 570 580 590 600
GMARYHVTVC TGELEGAGTD ANVYLCLFGD VGDTGERLLY NCRNNTDLFE
610 620 630 640 650
KGNADEFTIE SVTMRNVRRV RIRHDGKGSG SGWYLDRVLV REEGQPESDN
660 670 680 690 700
VEFPCLRWLD KDKDDGQLVR ELLPSDSSAT LKNFRYHISL KTGDVSGAST
710 720 730 740 750
DSRVYIKLYG DKSDTIKQVL LVSDNNLKDY FERGRVDEFT LETLNIGNIN
760 770 780 790 800
RLVIGHDSTG MHASWFLGSV QIRVPRQGKQ YTFPANRWLD KNQADGRLEV
810 820 830 840 850
ELYPSEVVEI QKLVHYEVEI WTGDVGGAGT SARVYMQIYG EKGKTEVLFL
860 870 880 890 900
SSRSKVFERA SKDTFQTDTF TIYAIDLGAL TKIRIRHDNT GNRAGWFLDR
910 920 930 940 950
IDITDMNNEI TYYFPCQRWL AVEEDDGQLS RELLPVDESY VLPQSEEGRG
960 970 980 990 1000
GGDNNPLDNL ALEQKDKSTT FSVTIKTGVK KNAGTDANVF ITLFGTQDDT
1010 1020 1030 1040 1050
GMTLLKSSKT NSDKFERDSI EIFTVETLDL GDLWKVRLGH DNTGKAPGWF
1060 1070 1080 1090 1100
VDWVEVDAPS LGKCMTFPCG RWLAKNEDDG SIIRDLFHAE LQTRLYTPFV
1110 1120 1130 1140 1150
PYEITLYTSD VFAAGTDANI FIIIYGCDAV CTQQKYLCTN KREQKQFFER
1160 1170 1180 1190 1200
KSASRFIVEL EDVGEIIEKI RIGHNNTGMN PGWHCSHVDI RRLLPDKDGA
1210 1220 1230 1240 1250
ETLTFPCDRW LATSEDDKKT IRELVPYDIF TEKYMKDGSL RQVYKEVEEP
1260 1270 1280 1290 1300
LDIVLYSVQI FTGNIPGAGT DAKVYITIYG DLGDTGERYL GKSENRTNKF
1310 1320 1330 1340 1350
ERGTADTFII EAADLGVIYK IKLRHDNSKW CADWYVEKVE IWNDTNEDEF
1360 1370 1380 1390 1400
LFLCGRWLSL KKEDGRLERL FYEKEYTGDR SSNCSSPADF WEIALSSKMA
1410 1420 1430 1440 1450
DVDISTVTGP MADYVQEGPI IPYYVSVTTG KHKDAATDSR AFIFLIGEDD
1460 1470 1480 1490 1500
ERSKRIWLDY PRGKRGFSRG SVEEFYVAGL DVGIIKKIEL GHDGASPESC
1510 1520 1530 1540 1550
WLVEELCLAV PTQGTKYMLN CNCWLAKDRG DGITSRVFDL LDAMVVNIGV
1560 1570 1580 1590 1600
KVLYEMTVWT GDVVGGGTDS NIFMTLYGIN GSTEEMQLDK KKARFEREQN
1610 1620 1630 1640 1650
DTFIMEILDI APFTKMRIRI DGLGSRPEWF LERILLKNMN TGDLTMFYYG
1660 1670 1680 1690 1700
DWLSQRKGKK TLVCEMCAVI DEEEMMEWTS YTVAVKTSDI LGAGTDANVF
1710 1720 1730 1740 1750
IIIFGENGDS GTLALKQSAN WNKFERNNTD TFNFPDMLSL GHLCKLRVWH
1760 1770 1780 1790 1800
DNKGIFPGWH LSYVDVKDNS RDETFHFQCD CWLSKSEGDG QTVRDFACAN
1810 1820 1830 1840 1850
NKICDELEET TYEIVIETGN GGETRENVWL ILEGRKNRSK EFLMENSSRQ
1860 1870 1880 1890 1900
RAFRKGTTDT FEFDSIYLGD IASLCVGHLA REDRFIPKRE LAWHVKTITI
1910 1920 1930 1940 1950
TEMEYGNVYF FNCDCLIPLK RKRKYFKVFE VTKTTESFAS KVQSLVPVKY
1960 1970 1980 1990 2000
EVIVTTGYEP GAGTDANVFV TIFGANGDTG KRELKQKMRN LFERGSTDRF
2010 2020 2030 2040 2050
FLETLELGEL RKVRLEHDSS GYCSGWLVEK VEVTNTSTGV ATIFNCGRWL
2060
DKKRGDGLTW RDLFPSV
Note: No experimental confirmation available. Based on EST and orthology.Curated
Length:2,067
Mass (Da):235,677
Last modified:September 12, 2018 - v4
Checksum:iDE990B7BB824A094
GO
Isoform 3 (identifier: Q8IVV2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-905: Missing.
     2008-2019: GELRKVRLEHDS → VVTRLGLAAECG
     2020-2067: 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:
     1-1555: Missing.
     2013-2067: Missing.

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:
     1-1555: Missing.

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

Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5GZB4F5GZB4_HUMAN
Lipoxygenase homology domain-contai...
LOXHD1
2,211Annotation score:
A0A2R8Y7K4A0A2R8Y7K4_HUMAN
Lipoxygenase homology domain-contai...
LOXHD1
2,273Annotation score:
J3QKX9J3QKX9_HUMAN
Lipoxygenase homology domain-contai...
LOXHD1 hCG_2036838
1,011Annotation score:
C9J269C9J269_HUMAN
Lipoxygenase homology domain-contai...
LOXHD1
180Annotation score:
F5GXP0F5GXP0_HUMAN
Lipoxygenase homology domain-contai...
LOXHD1
306Annotation score:
J3KRE7J3KRE7_HUMAN
Lipoxygenase homology domain-contai...
LOXHD1
1,100Annotation score:
C9JMG7C9JMG7_HUMAN
Lipoxygenase homology domain-contai...
LOXHD1
40Annotation score:
C9IYQ1C9IYQ1_HUMAN
Lipoxygenase homology domain-contai...
LOXHD1
23Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti949R → G in AAH41860 (PubMed:15489334).Curated1
Sequence conflicti1040H → N in AAH41860 (PubMed:15489334).Curated1
Sequence conflicti1221I → V in AAH41860 (PubMed:15489334).Curated1
Sequence conflicti1892A → V in AAH47720 (PubMed:15489334).Curated1
Sequence conflicti1910F → L in BAB71390 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_056923363V → I. Corresponds to variant dbSNP:rs10163657EnsemblClinVar.1
Natural variantiVAR_056924626G → C. Corresponds to variant dbSNP:rs34589386EnsemblClinVar.1
Natural variantiVAR_056925632G → C. Corresponds to variant dbSNP:rs35088381EnsemblClinVar.1
Natural variantiVAR_056926676D → G. Corresponds to variant dbSNP:rs16978578EnsemblClinVar.1
Natural variantiVAR_056927825V → M. Corresponds to variant dbSNP:rs36086089EnsemblClinVar.1
Natural variantiVAR_0569281177T → M. Corresponds to variant dbSNP:rs7244681Ensembl.1
Natural variantiVAR_0569291417E → G. Corresponds to variant dbSNP:rs12606417Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0289471 – 1555Missing in isoform 5 and isoform 4. 1 PublicationAdd BLAST1555
Alternative sequenceiVSP_0596711 – 905Missing in isoform 3. 1 PublicationAdd BLAST905
Alternative sequenceiVSP_0596722008 – 2019GELRK…LEHDS → VVTRLGLAAECG in isoform 3. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_0596732013 – 2067Missing in isoform 4. 1 PublicationAdd BLAST55
Alternative sequenceiVSP_0596742020 – 2067Missing in isoform 3. 1 PublicationAdd BLAST48

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.
KC877690 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_011525811.2 [Q8IVV2-5]
XP_016881037.1, XM_017025548.1 [Q8IVV2-1]
UniGeneiHs.345877

Genome annotation databases

EnsembliENST00000300591; ENSP00000300591; ENSG00000167210 [Q8IVV2-3]
ENST00000398686; ENSP00000381676; ENSG00000167210 [Q8IVV2-5]
ENST00000398705; ENSP00000381692; ENSG00000167210 [Q8IVV2-4]
ENST00000441551; ENSP00000387621; ENSG00000167210 [Q8IVV2-1]
GeneIDi125336
KEGGihsa:125336
UCSCiuc002lcd.5 human [Q8IVV2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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.
KC877690 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_011525811.2 [Q8IVV2-5]
XP_016881037.1, XM_017025548.1 [Q8IVV2-1]
UniGeneiHs.345877

3D structure databases

ProteinModelPortaliQ8IVV2
SMRiQ8IVV2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125926, 2 interactors
STRINGi9606.ENSP00000300591

PTM databases

CarbonylDBiQ8IVV2
iPTMnetiQ8IVV2
PhosphoSitePlusiQ8IVV2

Polymorphism and mutation databases

BioMutaiLOXHD1
DMDMi294862503

Proteomic databases

PaxDbiQ8IVV2
PeptideAtlasiQ8IVV2
PRIDEiQ8IVV2
ProteomicsDBi70774
70775 [Q8IVV2-3]
70776 [Q8IVV2-4]
70777 [Q8IVV2-5]

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]
ENST00000441551; ENSP00000387621; ENSG00000167210 [Q8IVV2-1]
GeneIDi125336
KEGGihsa:125336
UCSCiuc002lcd.5 human [Q8IVV2-1]

Organism-specific databases

CTDi125336
DisGeNETi125336
EuPathDBiHostDB:ENSG00000167210.16
GeneCardsiLOXHD1
GeneReviewsiLOXHD1
HGNCiHGNC:26521 LOXHD1
MalaCardsiLOXHD1
MIMi613072 gene
613079 phenotype
neXtProtiNX_Q8IVV2
OpenTargetsiENSG00000167210
Orphaneti90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
PharmGKBiPA134878065
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJEB Eukaryota
ENOG410XTDU LUCA
GeneTreeiENSGT00390000018830
HOVERGENiHBG108091
InParanoidiQ8IVV2
PhylomeDBiQ8IVV2
TreeFamiTF350466

Miscellaneous databases

ChiTaRSiLOXHD1 human
GeneWikiiLOXHD1
GenomeRNAii125336
PROiPR:Q8IVV2
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000167210 Expressed in 69 organ(s), highest expression level in testis
CleanExiHS_LOXHD1
ExpressionAtlasiQ8IVV2 baseline and differential
GenevisibleiQ8IVV2 HS

Family and domain databases

Gene3Di2.40.180.10, 12 hits
InterProiView protein in InterPro
IPR037060 Catalase_core_sf
IPR001024 PLAT/LH2_dom
IPR036392 PLAT/LH2_dom_sf
PfamiView protein in Pfam
PF01477 PLAT, 15 hits
SMARTiView protein in SMART
SM00308 LH2, 12 hits
SUPFAMiSSF49723 SSF49723, 15 hits
PROSITEiView protein in PROSITE
PS50095 PLAT, 15 hits
ProtoNetiSearch...

Entry informationi

Entry nameiLOXH1_HUMAN
AccessioniPrimary (citable) accession number: Q8IVV2
Secondary accession number(s): B7WNN3
, B7WNT1, B7WPI9, H7BZ41, Q6ZRY7, Q86WW9, Q96DL7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: September 12, 2018
Last modified: November 7, 2018
This is version 127 of the entry and version 4 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
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