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Q2M1P5

- KIF7_HUMAN

UniProt

Q2M1P5 - KIF7_HUMAN

Protein

Kinesin-like protein KIF7

Gene

KIF7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 74 (01 Oct 2014)
      Sequence version 2 (04 Dec 2007)
      Previous versions | rss
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    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. ATP binding Source: UniProtKB-KW
    2. microtubule motor activity Source: UniProtKB
    3. protein binding Source: UniProtKB

    GO - Biological processi

    1. metabolic process Source: GOC
    2. microtubule-based movement Source: InterPro
    3. negative regulation of smoothened signaling pathway Source: UniProtKB
    4. positive regulation of smoothened signaling pathway Source: UniProtKB

    Keywords - Molecular functioni

    Motor protein, Repressor

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    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: InterPro

    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.
    475. Joubert syndrome.
    220493. Joubert syndrome with ocular defect.
    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

    ArrayExpressiQ2M1P5.
    BgeeiQ2M1P5.
    CleanExiHS_KIF7.
    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. 3 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 – 226
    Helixi27 – 315
    Beta strandi38 – 414
    Helixi42 – 443
    Beta strandi46 – 494
    Turni50 – 523
    Beta strandi53 – 564
    Beta strandi58 – 614
    Helixi67 – 748
    Helixi76 – 838
    Beta strandi88 – 958
    Helixi100 – 1045
    Helixi119 – 13315
    Beta strandi137 – 14913
    Beta strandi152 – 1554
    Helixi163 – 1653
    Beta strandi167 – 1704
    Beta strandi176 – 1805
    Helixi189 – 20416
    Helixi214 – 2163
    Beta strandi217 – 22812
    Beta strandi243 – 25210
    Helixi278 – 28912
    Turni292 – 2965
    Helixi301 – 3033
    Helixi305 – 3095
    Turni310 – 3123
    Beta strandi313 – 3153
    Beta strandi318 – 3269
    Helixi330 – 3323
    Helixi333 – 34513

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    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.
    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

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    MGLEAQRLPG AEEAPVRVAL RVRPLLPKEL LHGHQSCLQV EPGLGRVTLG     50
    RDRHFGFHVV LAEDAGQEAV YQACVQPLLE AFFEGFNATV FAYGQTGSGK 100
    TYTMGEASVA SLLEDEQGIV PRAMAEAFKL IDENDLLDCL VHVSYLEVYK 150
    EEFRDLLEVG TASRDIQLRE DERGNVVLCG VKEVDVEGLD EVLSLLEMGN 200
    AARHTGATHL NHLSSRSHTV FTVTLEQRGR APSRLPRPAP GQLLVSKFHF 250
    VDLAGSERVL KTGSTGERLK ESIQINSSLL ALGNVISALG DPQRRGSHIP 300
    YRDSKITRIL KDSLGGNAKT VMIACVSPSS SDFDETLNTL NYASRAQNIR 350
    NRATVNWRPE AERPPEETAS GARGPPRHRS ETRIIHRGRR APGPATASAA 400
    AAMRLGAECA RYRACTDAAY SLLRELQAEP GLPGAAARKV RDWLCAVEGE 450
    RSALSSASGP DSGIESASVE DQAAQGAGGR KEDEGAQQLL TLQNQVARLE 500
    EENRDFLAAL EDAMEQYKLQ SDRLREQQEE MVELRLRLEL VRPGWGGPRL 550
    LNGLPPGSFV PRPHTAPLGG AHAHVLGMVP PACLPGDEVG SEQRGEQVTN 600
    GREAGAELLT EVNRLGSGSS AASEEEEEEE EPPRRTLHLR RNRISNCSQR 650
    AGARPGSLPE RKGPELCLEE LDAAIPGSRA VGGSKARVQA RQVPPATASE 700
    WRLAQAQQKI RELAINIRMK EELIGELVRT GKAAQALNRQ HSQRIRELEQ 750
    EAEQVRAELS EGQRQLRELE GKELQDAGER SRLQEFRRRV AAAQSQVQVL 800
    KEKKQATERL VSLSAQSEKR LQELERNVQL MRQQQGQLQR RLREETEQKR 850
    RLEAEMSKRQ HRVKELELKH EQQQKILKIK TEEIAAFQRK RRSGSNGSVV 900
    SLEQQQKIEE QKKWLDQEME KVLQQRRALE ELGEELHKRE AILAKKEALM 950
    QEKTGLESKR LRSSQALNED IVRVSSRLEH LEKELSEKSG QLRQGSAQSQ 1000
    QQIRGEIDSL RQEKDSLLKQ RLEIDGKLRQ GSLLSPEEER TLFQLDEAIE 1050
    ALDAAIEYKN EAITCRQRVL RASASLLSQC EMNLMAKLSY LSSSETRALL 1100
    CKYFDKVVTL REEQHQQQIA FSELEMQLEE QQRLVYWLEV ALERQRLEMD 1150
    RQLTLQQKEH EQNMQLLLQQ SRDHLGEGLA DSRRQYEARI QALEKELGRY 1200
    MWINQELKQK LGGVNAVGHS RGGEKRSLCS EGRQAPGNED ELHLAPELLW 1250
    LSPLTEGAPR TREETRDLVH APLPLTWKRS SLCGEEQGSP EELRQREAAE 1300
    PLVGRVLPVG EAGLPWNFGP LSKPRRELRR ASPGMIDVRK NPL 1343
    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.
    The sequence AAI12272.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAI12274.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAQ88750.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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:
    PDBe
    RCSB PDB
    PDBj
    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. 3 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.
    475. Joubert syndrome.
    220493. Joubert syndrome with ocular defect.
    2754. Joubert syndrome with orofaciodigital defect.
    166024. Multiple epiphyseal dysplasia, Al-Gazali type.
    PharmGKBi PA134871338.
    GenAtlasi Search...

    Phylogenomic databases

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

    Miscellaneous databases

    GenomeRNAii 374654.
    NextBioi 100233.
    PROi Q2M1P5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q2M1P5.
    Bgeei Q2M1P5.
    CleanExi HS_KIF7.
    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

    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: October 1, 2014
    This is version 74 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

    Dasty 3