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Q2M1P5

- KIF7_HUMAN

UniProt

Q2M1P5 - KIF7_HUMAN

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Protein

Kinesin-like protein KIF7

Gene

KIF7

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

Functioni

Essential for hedgehog signaling regulation: acts as both a negative and positive regulator of sonic hedgehog (Shh) and Indian hedgehog (Ihh) pathways, acting downstream of SMO, through both SUFU-dependent and -independent mechanisms (PubMed:21633164). Involved in the regulation of microtubular dynamics. Required for proper organization of the ciliary tip and control of ciliary localization of SUFU-GLI2 complexes (By similarity). Required for localization of GLI3 to cilia in response to Shh. Negatively regulates Shh signaling by preventing inappropriate activation of the transcriptional activator GLI2 in the absence of ligand. Positively regulates Shh signaling by preventing the processing of the transcription factor GLI3 into its repressor form. In keratinocytes, promotes the dissociation of SUFU-GLI2 complexes, GLI2 nuclear translocation and Shh signaling activation (By similarity). Involved in the regulation of epidermal differentiation and chondrocyte development (By similarity).By similarity1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi94 – 1018ATPPROSITE-ProRule annotation

GO - Molecular functioni

  1. ATPase activity Source: RefGenome
  2. ATP binding Source: UniProtKB-KW
  3. microtubule motor activity Source: UniProtKB

GO - Biological processi

  1. ATP catabolic process Source: GOC
  2. metabolic process Source: GOC
  3. microtubule-based movement Source: RefGenome
  4. negative regulation of smoothened signaling pathway Source: UniProtKB
  5. positive regulation of smoothened signaling pathway Source: UniProtKB
  6. smoothened signaling pathway Source: RefGenome
  7. ventricular system development Source: RefGenome
Complete GO annotation...

Keywords - Molecular functioni

Motor protein, Repressor

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_267634. Hedgehog 'off' state.

Names & Taxonomyi

Protein namesi
Recommended name:
Kinesin-like protein KIF7
Gene namesi
Name:KIF7
ORF Names:UNQ340/PRO539
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:30497. KIF7.

Subcellular locationi

Cell projectioncilium 1 Publication
Note: Localizes to the cilium tip.

GO - Cellular componenti

  1. cilium Source: UniProtKB
  2. kinesin complex Source: RefGenome
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium

Pathology & Biotechi

Involvement in diseasei

Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, and hydrolethalus syndrome among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome influence the clinical outcome. Primary ciliopathy loci can be modulated by pathogenic lesions in other ciliary genes to either exacerbate overall severity or induce specific endophenotypes. KIF7 may be causally associated with diverse ciliopathies, and also acts as a modifier gene across the ciliopathy spectrum.
Bardet-Biedl syndrome (BBS) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.1 Publication
Note: The gene represented in this entry may act as a disease modifier. Heterozygous missense mutations in KIF7 may genetically interact with other BBS genes and contribute to disease manifestation and severity.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti641 – 6411R → G in BBS; hypomorphic variant in vitro; may affect splicing; the patient also carries homozygous mutation R-390 in BBS1. 1 Publication
VAR_066451
Natural varianti834 – 8341Q → R Rare variant found in a patient with Bardet-Biedl syndrome also carrying a frameshift mutation in BBS10 and variant P-293 in BBS7. 1 Publication
Corresponds to variant rs138354681 [ dbSNP | Ensembl ].
VAR_066454
Natural varianti994 – 9941Q → R in BBS; hypomorphic variant in vitro; the patient is a compound heterozygote for a truncating mutation and mutation R-390 in BBS1. 1 Publication
Corresponds to variant rs138410949 [ dbSNP | Ensembl ].
VAR_066455
Natural varianti1068 – 10681R → W in BBS; hypomorphic variant in vitro; the patient is a compound heterozygote for two frameshift mutations in BBS9. 1 Publication
VAR_066456
Hydrolethalus syndrome 2 (HLS2) [MIM:614120]: An embryonic lethal disorder characterized by hydrocephaly or anencephaly, postaxial polydactyly of the upper limbs, and pre- or postaxial polydactyly of the lower limbs. Duplication of the hallux is a common finding.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1115 – 11151H → Q in HLS2; also found in a patient with Meckel-Gruber syndrome; hypomorphic variant in vitro. 1 Publication
Corresponds to variant rs142032413 [ dbSNP | Ensembl ].
VAR_066457
Acrocallosal syndrome (ACLS) [MIM:200990]: A syndrome characterized by hypogenesis or agenesis of the corpus callosum. Clinical features include postaxial polydactyly, hallux duplication, macrocephaly, craniofacial abnormalities, severe developmental delay and mental retardation.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti702 – 7021R → Q in ACLS; hypomorphic mutation in vitro; may affect splicing. 1 Publication
VAR_066452
Joubert syndrome 12 (JBTS12) [MIM:200990]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1329 – 13324Missing in JBTS12; found in a patient with Joubert syndrome that also carries mutations L-358 and T-833 in TMEM67. 1 Publication
VAR_066458
Pallister-Hall syndrome 1 (PHS1) [MIM:146510]: An autosomal dominant disorder characterized by a wide range of clinical manifestations. Clinical features include hypothalamic hamartoma, pituitary dysfunction, central or postaxial polydactyly, and syndactyly. Malformations are frequent in the viscera, e.g. anal atresia, bifid uvula, congenital heart malformations, pulmonary or renal dysplasia.1 Publication
Note: The gene represented in this entry may be involved in disease pathogenesis.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti632 – 6321P → L in PHS1; hypomorphic mutation in vitro. 1 Publication
Corresponds to variant rs115857753 [ dbSNP | Ensembl ].
VAR_066450

Keywords - Diseasei

Bardet-Biedl syndrome, Ciliopathy, Disease mutation, Joubert syndrome, Mental retardation, Obesity

Organism-specific databases

MIMi146510. phenotype.
200990. phenotype.
209900. phenotype.
614120. phenotype.
Orphaneti36. Acrocallosal syndrome.
2189. Hydrolethalus.
2754. Joubert syndrome with orofaciodigital defect.
166024. Multiple epiphyseal dysplasia, Al-Gazali type.
PharmGKBiPA134871338.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 13431343Kinesin-like protein KIF7PRO_0000307146Add
BLAST

Proteomic databases

MaxQBiQ2M1P5.
PaxDbiQ2M1P5.
PRIDEiQ2M1P5.

PTM databases

PhosphoSiteiQ2M1P5.

Expressioni

Tissue specificityi

Embryonic stem cells, melanotic melanoma and Jurkat T-cells. Expressed in heart, lung, liver, kidney, testis, retina, placenta, pancreas, colon, small intestin, prostate and thymus.1 Publication

Gene expression databases

BgeeiQ2M1P5.
CleanExiHS_KIF7.
ExpressionAtlasiQ2M1P5. baseline and differential.
GenevestigatoriQ2M1P5.

Organism-specific databases

HPAiHPA043145.

Interactioni

Subunit structurei

Can form homodimers and interacts with microtubules (By similarity). Interacts with GLI1, GLI2, GLI3, SMO and SUFU. Interacts with NPHP1.By similarity2 Publications

Protein-protein interaction databases

BioGridi131912. 4 interactions.
IntActiQ2M1P5. 3 interactions.
MINTiMINT-6774537.
STRINGi9606.ENSP00000377934.

Structurei

Secondary structure

1
1343
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi17 – 226Combined sources
Helixi27 – 315Combined sources
Beta strandi38 – 414Combined sources
Helixi42 – 443Combined sources
Beta strandi46 – 494Combined sources
Turni50 – 523Combined sources
Beta strandi53 – 564Combined sources
Beta strandi58 – 614Combined sources
Helixi67 – 748Combined sources
Helixi76 – 838Combined sources
Beta strandi88 – 958Combined sources
Helixi100 – 1045Combined sources
Helixi119 – 13315Combined sources
Beta strandi137 – 14913Combined sources
Beta strandi152 – 1554Combined sources
Helixi163 – 1653Combined sources
Beta strandi167 – 1704Combined sources
Beta strandi176 – 1805Combined sources
Helixi189 – 20416Combined sources
Helixi214 – 2163Combined sources
Beta strandi217 – 22812Combined sources
Beta strandi243 – 25210Combined sources
Helixi278 – 28912Combined sources
Turni292 – 2965Combined sources
Helixi301 – 3033Combined sources
Helixi305 – 3095Combined sources
Turni310 – 3123Combined sources
Beta strandi313 – 3153Combined sources
Beta strandi318 – 3269Combined sources
Helixi330 – 3323Combined sources
Helixi333 – 34513Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2XT3X-ray1.88A8-347[»]
4A14X-ray1.60A8-347[»]
ProteinModelPortaliQ2M1P5.
SMRiQ2M1P5. Positions 12-347.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini15 – 349335Kinesin motorPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni513 – 775263Sufficient for interaction with NPHP1Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili480 – 54263Sequence AnalysisAdd
BLAST
Coiled coili698 – 1057360Sequence AnalysisAdd
BLAST
Coiled coili1109 – 1211103Sequence AnalysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi395 – 4028Poly-Ala
Compositional biasi624 – 6318Poly-Glu

Sequence similaritiesi

Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. KIF27 subfamily.PROSITE-ProRule annotation
Contains 1 kinesin motor domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiCOG5059.
GeneTreeiENSGT00770000120453.
HOGENOMiHOG000068072.
HOVERGENiHBG054858.
InParanoidiQ2M1P5.
KOiK10395.
OMAiMEQYKQQ.
OrthoDBiEOG7BZVRH.
PhylomeDBiQ2M1P5.
TreeFamiTF325946.

Family and domain databases

Gene3Di3.40.850.10. 1 hit.
InterProiIPR027640. Kinesin-like_fam.
IPR019821. Kinesin_motor_CS.
IPR001752. Kinesin_motor_dom.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR24115. PTHR24115. 1 hit.
PfamiPF00225. Kinesin. 1 hit.
[Graphical view]
PRINTSiPR00380. KINESINHEAVY.
SMARTiSM00129. KISc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS00411. KINESIN_MOTOR_1. 1 hit.
PS50067. KINESIN_MOTOR_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q2M1P5-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MGLEAQRLPG AEEAPVRVAL RVRPLLPKEL LHGHQSCLQV EPGLGRVTLG
60 70 80 90 100
RDRHFGFHVV LAEDAGQEAV YQACVQPLLE AFFEGFNATV FAYGQTGSGK
110 120 130 140 150
TYTMGEASVA SLLEDEQGIV PRAMAEAFKL IDENDLLDCL VHVSYLEVYK
160 170 180 190 200
EEFRDLLEVG TASRDIQLRE DERGNVVLCG VKEVDVEGLD EVLSLLEMGN
210 220 230 240 250
AARHTGATHL NHLSSRSHTV FTVTLEQRGR APSRLPRPAP GQLLVSKFHF
260 270 280 290 300
VDLAGSERVL KTGSTGERLK ESIQINSSLL ALGNVISALG DPQRRGSHIP
310 320 330 340 350
YRDSKITRIL KDSLGGNAKT VMIACVSPSS SDFDETLNTL NYASRAQNIR
360 370 380 390 400
NRATVNWRPE AERPPEETAS GARGPPRHRS ETRIIHRGRR APGPATASAA
410 420 430 440 450
AAMRLGAECA RYRACTDAAY SLLRELQAEP GLPGAAARKV RDWLCAVEGE
460 470 480 490 500
RSALSSASGP DSGIESASVE DQAAQGAGGR KEDEGAQQLL TLQNQVARLE
510 520 530 540 550
EENRDFLAAL EDAMEQYKLQ SDRLREQQEE MVELRLRLEL VRPGWGGPRL
560 570 580 590 600
LNGLPPGSFV PRPHTAPLGG AHAHVLGMVP PACLPGDEVG SEQRGEQVTN
610 620 630 640 650
GREAGAELLT EVNRLGSGSS AASEEEEEEE EPPRRTLHLR RNRISNCSQR
660 670 680 690 700
AGARPGSLPE RKGPELCLEE LDAAIPGSRA VGGSKARVQA RQVPPATASE
710 720 730 740 750
WRLAQAQQKI RELAINIRMK EELIGELVRT GKAAQALNRQ HSQRIRELEQ
760 770 780 790 800
EAEQVRAELS EGQRQLRELE GKELQDAGER SRLQEFRRRV AAAQSQVQVL
810 820 830 840 850
KEKKQATERL VSLSAQSEKR LQELERNVQL MRQQQGQLQR RLREETEQKR
860 870 880 890 900
RLEAEMSKRQ HRVKELELKH EQQQKILKIK TEEIAAFQRK RRSGSNGSVV
910 920 930 940 950
SLEQQQKIEE QKKWLDQEME KVLQQRRALE ELGEELHKRE AILAKKEALM
960 970 980 990 1000
QEKTGLESKR LRSSQALNED IVRVSSRLEH LEKELSEKSG QLRQGSAQSQ
1010 1020 1030 1040 1050
QQIRGEIDSL RQEKDSLLKQ RLEIDGKLRQ GSLLSPEEER TLFQLDEAIE
1060 1070 1080 1090 1100
ALDAAIEYKN EAITCRQRVL RASASLLSQC EMNLMAKLSY LSSSETRALL
1110 1120 1130 1140 1150
CKYFDKVVTL REEQHQQQIA FSELEMQLEE QQRLVYWLEV ALERQRLEMD
1160 1170 1180 1190 1200
RQLTLQQKEH EQNMQLLLQQ SRDHLGEGLA DSRRQYEARI QALEKELGRY
1210 1220 1230 1240 1250
MWINQELKQK LGGVNAVGHS RGGEKRSLCS EGRQAPGNED ELHLAPELLW
1260 1270 1280 1290 1300
LSPLTEGAPR TREETRDLVH APLPLTWKRS SLCGEEQGSP EELRQREAAE
1310 1320 1330 1340
PLVGRVLPVG EAGLPWNFGP LSKPRRELRR ASPGMIDVRK NPL
Length:1,343
Mass (Da):150,587
Last modified:December 4, 2007 - v2
Checksum:i5217A6F36C156587
GO

Sequence cautioni

The sequence AAI04045.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAI12272.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAI12274.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAQ88750.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti548 – 5481P → L in AAQ88750. (PubMed:12975309)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti52 – 521D → N.
Corresponds to variant rs8179065 [ dbSNP | Ensembl ].
VAR_061287
Natural varianti632 – 6321P → L in PHS1; hypomorphic mutation in vitro. 1 Publication
Corresponds to variant rs115857753 [ dbSNP | Ensembl ].
VAR_066450
Natural varianti641 – 6411R → G in BBS; hypomorphic variant in vitro; may affect splicing; the patient also carries homozygous mutation R-390 in BBS1. 1 Publication
VAR_066451
Natural varianti702 – 7021R → Q in ACLS; hypomorphic mutation in vitro; may affect splicing. 1 Publication
VAR_066452
Natural varianti759 – 7591L → P Found as heterozygous variant in a patient with Bardet-Biedl syndrome; hypomorphic variant in vitro. 1 Publication
VAR_066453
Natural varianti834 – 8341Q → R Rare variant found in a patient with Bardet-Biedl syndrome also carrying a frameshift mutation in BBS10 and variant P-293 in BBS7. 1 Publication
Corresponds to variant rs138354681 [ dbSNP | Ensembl ].
VAR_066454
Natural varianti958 – 9581S → I.1 Publication
Corresponds to variant rs3803530 [ dbSNP | Ensembl ].
VAR_035363
Natural varianti994 – 9941Q → R in BBS; hypomorphic variant in vitro; the patient is a compound heterozygote for a truncating mutation and mutation R-390 in BBS1. 1 Publication
Corresponds to variant rs138410949 [ dbSNP | Ensembl ].
VAR_066455
Natural varianti1005 – 10051G → R.1 Publication
Corresponds to variant rs12900805 [ dbSNP | Ensembl ].
VAR_035364
Natural varianti1060 – 10601N → S Probable disease-associate mutation found in a family with macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. 1 Publication
VAR_071185
Natural varianti1068 – 10681R → W in BBS; hypomorphic variant in vitro; the patient is a compound heterozygote for two frameshift mutations in BBS9. 1 Publication
VAR_066456
Natural varianti1115 – 11151H → Q in HLS2; also found in a patient with Meckel-Gruber syndrome; hypomorphic variant in vitro. 1 Publication
Corresponds to variant rs142032413 [ dbSNP | Ensembl ].
VAR_066457
Natural varianti1329 – 13324Missing in JBTS12; found in a patient with Joubert syndrome that also carries mutations L-358 and T-833 in TMEM67. 1 Publication
VAR_066458

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC079075 Genomic DNA. No translation available.
AY358384 mRNA. Translation: AAQ88750.1. Different initiation.
BC040878 mRNA. Translation: AAH40878.1.
BC104044 mRNA. Translation: AAI04045.1. Different initiation.
BC112271 mRNA. Translation: AAI12272.1. Different initiation.
BC112273 mRNA. Translation: AAI12274.1. Different initiation.
CCDSiCCDS32325.2.
RefSeqiNP_940927.2. NM_198525.2.
XP_005254959.1. XM_005254902.1.
UniGeneiHs.513134.

Genome annotation databases

EnsembliENST00000394412; ENSP00000377934; ENSG00000166813.
GeneIDi374654.
KEGGihsa:374654.
UCSCiuc002bof.2. human.

Polymorphism databases

DMDMi172045866.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC079075 Genomic DNA. No translation available.
AY358384 mRNA. Translation: AAQ88750.1 . Different initiation.
BC040878 mRNA. Translation: AAH40878.1 .
BC104044 mRNA. Translation: AAI04045.1 . Different initiation.
BC112271 mRNA. Translation: AAI12272.1 . Different initiation.
BC112273 mRNA. Translation: AAI12274.1 . Different initiation.
CCDSi CCDS32325.2.
RefSeqi NP_940927.2. NM_198525.2.
XP_005254959.1. XM_005254902.1.
UniGenei Hs.513134.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2XT3 X-ray 1.88 A 8-347 [» ]
4A14 X-ray 1.60 A 8-347 [» ]
ProteinModelPortali Q2M1P5.
SMRi Q2M1P5. Positions 12-347.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 131912. 4 interactions.
IntActi Q2M1P5. 3 interactions.
MINTi MINT-6774537.
STRINGi 9606.ENSP00000377934.

Chemistry

ChEMBLi CHEMBL2021751.

PTM databases

PhosphoSitei Q2M1P5.

Polymorphism databases

DMDMi 172045866.

Proteomic databases

MaxQBi Q2M1P5.
PaxDbi Q2M1P5.
PRIDEi Q2M1P5.

Protocols and materials databases

DNASUi 374654.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000394412 ; ENSP00000377934 ; ENSG00000166813 .
GeneIDi 374654.
KEGGi hsa:374654.
UCSCi uc002bof.2. human.

Organism-specific databases

CTDi 374654.
GeneCardsi GC15M090171.
GeneReviewsi KIF7.
H-InvDB HIX0038116.
HGNCi HGNC:30497. KIF7.
HPAi HPA043145.
MIMi 146510. phenotype.
200990. phenotype.
209900. phenotype.
611254. gene.
614120. phenotype.
neXtProti NX_Q2M1P5.
Orphaneti 36. Acrocallosal syndrome.
2189. Hydrolethalus.
2754. Joubert syndrome with orofaciodigital defect.
166024. Multiple epiphyseal dysplasia, Al-Gazali type.
PharmGKBi PA134871338.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5059.
GeneTreei ENSGT00770000120453.
HOGENOMi HOG000068072.
HOVERGENi HBG054858.
InParanoidi Q2M1P5.
KOi K10395.
OMAi MEQYKQQ.
OrthoDBi EOG7BZVRH.
PhylomeDBi Q2M1P5.
TreeFami TF325946.

Enzyme and pathway databases

Reactomei REACT_267634. Hedgehog 'off' state.

Miscellaneous databases

ChiTaRSi KIF7. human.
GenomeRNAii 374654.
NextBioi 100233.
PROi Q2M1P5.
SOURCEi Search...

Gene expression databases

Bgeei Q2M1P5.
CleanExi HS_KIF7.
ExpressionAtlasi Q2M1P5. baseline and differential.
Genevestigatori Q2M1P5.

Family and domain databases

Gene3Di 3.40.850.10. 1 hit.
InterProi IPR027640. Kinesin-like_fam.
IPR019821. Kinesin_motor_CS.
IPR001752. Kinesin_motor_dom.
IPR027417. P-loop_NTPase.
[Graphical view ]
PANTHERi PTHR24115. PTHR24115. 1 hit.
Pfami PF00225. Kinesin. 1 hit.
[Graphical view ]
PRINTSi PR00380. KINESINHEAVY.
SMARTi SM00129. KISc. 1 hit.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 1 hit.
PROSITEi PS00411. KINESIN_MOTOR_1. 1 hit.
PS50067. KINESIN_MOTOR_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Analysis of the DNA sequence and duplication history of human chromosome 15."
    Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
    , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
    Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 453-1343.
  3. "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] OF 462-1343, VARIANTS ILE-958 AND ARG-1005.
    Tissue: Heart, Lung and Ovary.
  4. "Characterization of KIF7 gene in silico."
    Katoh Y., Katoh M.
    Int. J. Oncol. 25:1881-1886(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION.
  5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  6. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. "The mammalian Cos2 homolog Kif7 plays an essential role in modulating Hh signal transduction during development."
    Endoh-Yamagami S., Evangelista M., Wilson D., Wen X., Theunissen J.W., Phamluong K., Davis M., Scales S.J., Solloway M.J., de Sauvage F.J., Peterson A.S.
    Curr. Biol. 19:1320-1326(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, INTERACTION WITH GLI1; GLI2; GLI3; SMO AND SUFU.
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. Cited for: FUNCTION, INTERACTION WITH NPHP1, TISSUE SPECIFICITY, VARIANT JBTS12 1329-ARG--SER-1332 DEL.
  10. Cited for: INVOLVEMENT IN CILIOPATHIES, VARIANT PHS1 LEU-632, VARIANTS BBS GLY-641; ARG-994 AND TRP-1068, VARIANT ACLS GLN-702, VARIANT HLS2 GLN-1115, VARIANTS PRO-759 AND ARG-834, CHARACTERIZATION OF VARIANTS VARIANT PHS1 LEU-632, CHARACTERIZATION OF VARIANTS BBS GLY-641; ARG-994 AND TRP-1068, CHARACTERIZATION OF VARIANT ACLS GLN-702, CHARACTERIZATION OF VARIANT HLS2 GLN-1115, CHARACTERIZATION OF VARIANTS PRO-759 AND ARG-834.
  11. Cited for: INVOLVEMENT IN ACLS.
  12. "A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance."
    Ali B.R., Silhavy J.L., Akawi N.A., Gleeson J.G., Al-Gazali L.
    Orphanet J. Rare Dis. 7:27-27(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SER-1060.

Entry informationi

Entry nameiKIF7_HUMAN
AccessioniPrimary (citable) accession number: Q2M1P5
Secondary accession number(s): Q3SXY0, Q6UXE9, Q8IW72
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: December 4, 2007
Last modified: November 26, 2014
This is version 76 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

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