Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q2M1P5 (KIF7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 73. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Kinesin-like protein KIF7
Gene names
Name:KIF7
ORF Names:UNQ340/PRO539
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1343 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Acts as both a negative and positive regulator of sonic hedgehog (Shh) pathway, acting downstream of SMO. Negatively regulates the pathway by preventing inappropriate activation of the transcriptional activator GLI2 in the absence of ligand. Positively regulates the pathway by preventing the processing of the transcription factor GLI3 into its repressor form. Required for efficient localization of GLI3 to cilia in response to Shh. Affects microtubular dynamics and acts as a ciliary motor. Ref.9

Subunit structure

Interacts with GLI1, GLI2, GLI3, SMO and SUFU. Interacts with NPHP1. Ref.7 Ref.9

Subcellular location

Cell projectioncilium. Note: SMO is required for its accumulation within cilia. Moves from the cilia base to the cilia tip in response to activation of the Shh pathway. Ref.7

Tissue specificity

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. Ref.9

Involvement in disease

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.
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. Ref.10

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9

Pallister-Hall syndrome (PHS) [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.
Note: The gene represented in this entry may be involved in disease pathogenesis. Ref.10

Sequence similarities

Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. KIF27 subfamily.

Contains 1 kinesin motor domain.

Sequence caution

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 13431343Kinesin-like protein KIF7
PRO_0000307146

Regions

Domain15 – 349335Kinesin motor
Nucleotide binding94 – 1018ATP By similarity
Region513 – 775263Sufficient for interaction with NPHP1
Coiled coil480 – 54263 Potential
Coiled coil698 – 1057360 Potential
Coiled coil1109 – 1211103 Potential
Compositional bias395 – 4028Poly-Ala
Compositional bias624 – 6318Poly-Glu

Natural variations

Natural variant521D → N.
Corresponds to variant rs8179065 [ dbSNP | Ensembl ].
VAR_061287
Natural variant6321P → L in PHS; hypomorphic mutation in vitro. Ref.10
Corresponds to variant rs115857753 [ dbSNP | Ensembl ].
VAR_066450
Natural variant6411R → G in BBS; hypomorphic variant in vitro; may affect splicing; the patient also carries homozygous mutation R-390 in BBS1. Ref.10
VAR_066451
Natural variant7021R → Q in ACLS; hypomorphic mutation in vitro; may affect splicing. Ref.10
VAR_066452
Natural variant7591L → P Found as heterozygous variant in a patient with Bardet-Biedl syndrome; hypomorphic variant in vitro. Ref.10
VAR_066453
Natural variant8341Q → R Rare variant found in a patient with Bardet-Biedl syndrome also carrying a frameshift mutation in BBS10 and variant P-293 in BBS7. Ref.10
Corresponds to variant rs138354681 [ dbSNP | Ensembl ].
VAR_066454
Natural variant9581S → I. Ref.3
Corresponds to variant rs3803530 [ dbSNP | Ensembl ].
VAR_035363
Natural variant9941Q → R in BBS; hypomorphic variant in vitro; the patient is a compound heterozygote for a truncating mutation and mutation R-390 in BBS1. Ref.10
Corresponds to variant rs138410949 [ dbSNP | Ensembl ].
VAR_066455
Natural variant10051G → R. Ref.3
Corresponds to variant rs12900805 [ dbSNP | Ensembl ].
VAR_035364
Natural variant10681R → W in BBS; hypomorphic variant in vitro; the patient is a compound heterozygote for two frameshift mutations in BBS9. Ref.10
VAR_066456
Natural variant11151H → Q in HLS2; also found in a patient with Meckel-Gruber syndrome; hypomorphic variant in vitro. Ref.10
Corresponds to variant rs142032413 [ dbSNP | Ensembl ].
VAR_066457
Natural variant1329 – 13324Missing in JBTS12; found in a patient with Joubert syndrome that also carries mutations L-358 and T-833 in TMEM67.
VAR_066458

Experimental info

Sequence conflict5481P → L in AAQ88750. Ref.2

Secondary structure

........................................................ 1343
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q2M1P5 [UniParc].

Last modified December 4, 2007. Version 2.
Checksum: 5217A6F36C156587

FASTA1,343150,587
        10         20         30         40         50         60 
MGLEAQRLPG AEEAPVRVAL RVRPLLPKEL LHGHQSCLQV EPGLGRVTLG RDRHFGFHVV 

        70         80         90        100        110        120 
LAEDAGQEAV YQACVQPLLE AFFEGFNATV FAYGQTGSGK TYTMGEASVA SLLEDEQGIV 

       130        140        150        160        170        180 
PRAMAEAFKL IDENDLLDCL VHVSYLEVYK EEFRDLLEVG TASRDIQLRE DERGNVVLCG 

       190        200        210        220        230        240 
VKEVDVEGLD EVLSLLEMGN AARHTGATHL NHLSSRSHTV FTVTLEQRGR APSRLPRPAP 

       250        260        270        280        290        300 
GQLLVSKFHF VDLAGSERVL KTGSTGERLK ESIQINSSLL ALGNVISALG DPQRRGSHIP 

       310        320        330        340        350        360 
YRDSKITRIL KDSLGGNAKT VMIACVSPSS SDFDETLNTL NYASRAQNIR NRATVNWRPE 

       370        380        390        400        410        420 
AERPPEETAS GARGPPRHRS ETRIIHRGRR APGPATASAA AAMRLGAECA RYRACTDAAY 

       430        440        450        460        470        480 
SLLRELQAEP GLPGAAARKV RDWLCAVEGE RSALSSASGP DSGIESASVE DQAAQGAGGR 

       490        500        510        520        530        540 
KEDEGAQQLL TLQNQVARLE EENRDFLAAL EDAMEQYKLQ SDRLREQQEE MVELRLRLEL 

       550        560        570        580        590        600 
VRPGWGGPRL LNGLPPGSFV PRPHTAPLGG AHAHVLGMVP PACLPGDEVG SEQRGEQVTN 

       610        620        630        640        650        660 
GREAGAELLT EVNRLGSGSS AASEEEEEEE EPPRRTLHLR RNRISNCSQR AGARPGSLPE 

       670        680        690        700        710        720 
RKGPELCLEE LDAAIPGSRA VGGSKARVQA RQVPPATASE WRLAQAQQKI RELAINIRMK 

       730        740        750        760        770        780 
EELIGELVRT GKAAQALNRQ HSQRIRELEQ EAEQVRAELS EGQRQLRELE GKELQDAGER 

       790        800        810        820        830        840 
SRLQEFRRRV AAAQSQVQVL KEKKQATERL VSLSAQSEKR LQELERNVQL MRQQQGQLQR 

       850        860        870        880        890        900 
RLREETEQKR RLEAEMSKRQ HRVKELELKH EQQQKILKIK TEEIAAFQRK RRSGSNGSVV 

       910        920        930        940        950        960 
SLEQQQKIEE QKKWLDQEME KVLQQRRALE ELGEELHKRE AILAKKEALM QEKTGLESKR 

       970        980        990       1000       1010       1020 
LRSSQALNED IVRVSSRLEH LEKELSEKSG QLRQGSAQSQ QQIRGEIDSL RQEKDSLLKQ 

      1030       1040       1050       1060       1070       1080 
RLEIDGKLRQ GSLLSPEEER TLFQLDEAIE ALDAAIEYKN EAITCRQRVL RASASLLSQC 

      1090       1100       1110       1120       1130       1140 
EMNLMAKLSY LSSSETRALL CKYFDKVVTL REEQHQQQIA FSELEMQLEE QQRLVYWLEV 

      1150       1160       1170       1180       1190       1200 
ALERQRLEMD RQLTLQQKEH EQNMQLLLQQ SRDHLGEGLA DSRRQYEARI QALEKELGRY 

      1210       1220       1230       1240       1250       1260 
MWINQELKQK LGGVNAVGHS RGGEKRSLCS EGRQAPGNED ELHLAPELLW LSPLTEGAPR 

      1270       1280       1290       1300       1310       1320 
TREETRDLVH APLPLTWKRS SLCGEEQGSP EELRQREAAE PLVGRVLPVG EAGLPWNFGP 

      1330       1340 
LSKPRRELRR ASPGMIDVRK NPL 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
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]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics."
Dafinger C., Liebau M.C., Elsayed S.M., Hellenbroich Y., Boltshauser E., Korenke G.C., Fabretti F., Janecke A.R., Ebermann I., Nurnberg G., Nurnberg P., Zentgraf H., Koerber F., Addicks K., Elsobky E., Benzing T., Schermer B., Bolz H.J.
J. Clin. Invest. 121:2662-2667(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH NPHP1, TISSUE SPECIFICITY, VARIANT JBTS12 1329-ARG--SER-1332 DEL.
[10]"KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes."
Putoux A., Thomas S., Coene K.L., Davis E.E., Alanay Y., Ogur G., Uz E., Buzas D., Gomes C., Patrier S., Bennett C.L., Elkhartoufi N., Frison M.H., Rigonnot L., Joye N., Pruvost S., Utine G.E., Boduroglu K. expand/collapse author list , Nitschke P., Fertitta L., Thauvin-Robinet C., Munnich A., Cormier-Daire V., Hennekam R., Colin E., Akarsu N.A., Bole-Feysot C., Cagnard N., Schmitt A., Goudin N., Lyonnet S., Encha-Razavi F., Siffroi J.P., Winey M., Katsanis N., Gonzales M., Vekemans M., Beales P.L., Attie-Bitach T.
Nat. Genet. 43:601-606(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN CILIOPATHIES, VARIANT PHS 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 PHS 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS32325.2.
RefSeqNP_940927.2. NM_198525.2.
XP_005254959.1. XM_005254902.1.
UniGeneHs.513134.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2XT3X-ray1.88A8-347[»]
4A14X-ray1.60A8-347[»]
ProteinModelPortalQ2M1P5.
SMRQ2M1P5. Positions 12-347.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid131912. 3 interactions.
IntActQ2M1P5. 3 interactions.
MINTMINT-6774537.
STRING9606.ENSP00000377934.

Chemistry

ChEMBLCHEMBL2021751.

PTM databases

PhosphoSiteQ2M1P5.

Polymorphism databases

DMDM172045866.

Proteomic databases

MaxQBQ2M1P5.
PaxDbQ2M1P5.
PRIDEQ2M1P5.

Protocols and materials databases

DNASU374654.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000394412; ENSP00000377934; ENSG00000166813.
GeneID374654.
KEGGhsa:374654.
UCSCuc002bof.2. human.

Organism-specific databases

CTD374654.
GeneCardsGC15M090171.
GeneReviewsKIF7.
H-InvDBHIX0038116.
HGNCHGNC:30497. KIF7.
HPAHPA043145.
MIM146510. phenotype.
200990. phenotype.
209900. phenotype.
611254. gene.
614120. phenotype.
neXtProtNX_Q2M1P5.
Orphanet36. 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.
PharmGKBPA134871338.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5059.
HOGENOMHOG000068072.
HOVERGENHBG054858.
InParanoidQ2M1P5.
KOK10395.
OMAMEQYKQQ.
OrthoDBEOG7BZVRH.
PhylomeDBQ2M1P5.
TreeFamTF325946.

Gene expression databases

ArrayExpressQ2M1P5.
BgeeQ2M1P5.
CleanExHS_KIF7.
GenevestigatorQ2M1P5.

Family and domain databases

Gene3D3.40.850.10. 1 hit.
InterProIPR027640. Kinesin-like_fam.
IPR019821. Kinesin_motor_CS.
IPR001752. Kinesin_motor_dom.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERPTHR24115. PTHR24115. 1 hit.
PfamPF00225. Kinesin. 1 hit.
[Graphical view]
PRINTSPR00380. KINESINHEAVY.
SMARTSM00129. KISc. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 1 hit.
PROSITEPS00411. KINESIN_MOTOR_1. 1 hit.
PS50067. KINESIN_MOTOR_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi374654.
NextBio100233.
PROQ2M1P5.
SOURCESearch...

Entry information

Entry nameKIF7_HUMAN
AccessionPrimary (citable) accession number: Q2M1P5
Secondary accession number(s): Q3SXY0, Q6UXE9, Q8IW72
Entry history
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: December 4, 2007
Last modified: July 9, 2014
This is version 73 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM