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Q9HCM3

- K1549_HUMAN

UniProt

Q9HCM3 - K1549_HUMAN

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Protein

UPF0606 protein KIAA1549

Gene

KIAA1549

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

Functioni

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei1643 – 16442Breakpoint for translocation to form KIAA1549-BRAF fusion protein
Sitei1749 – 17502Breakpoint for translocation to form KIAA1549-BRAF fusion protein

Names & Taxonomyi

Protein namesi
Recommended name:
UPF0606 protein KIAA1549
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:22219. KIAA1549.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei998 – 101821HelicalSequence AnalysisAdd
BLAST
Transmembranei1299 – 131921HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving KIAA1549 is found in pilocytic astrocytoma. A tandem duplication of 2 Mb at 7q34 leads to the expression of a KIAA1549-BRAF fusion protein with a constitutive kinase activity and inducing cell transformation.1 Publication

Organism-specific databases

Orphaneti251612. Pilocytic astrocytoma.
PharmGKBiPA162393138.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 19501950UPF0606 protein KIAA1549PRO_0000342405Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1395 – 13951Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9HCM3.
PaxDbiQ9HCM3.
PRIDEiQ9HCM3.

PTM databases

PhosphoSiteiQ9HCM3.

Expressioni

Gene expression databases

BgeeiQ9HCM3.
CleanExiHS_KIAA1549.
GenevestigatoriQ9HCM3.

Organism-specific databases

HPAiHPA019560.

Interactioni

Protein-protein interaction databases

BioGridi121702. 14 interactions.
IntActiQ9HCM3. 13 interactions.
STRINGi9606.ENSP00000242365.

Structurei

3D structure databases

ProteinModelPortaliQ9HCM3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi494 – 764271Ser-richAdd
BLAST

Sequence similaritiesi

Belongs to the UPF0606 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG70685.
GeneTreeiENSGT00530000063472.
HOVERGENiHBG108038.
InParanoidiQ9HCM3.
OMAiMWRRATV.
OrthoDBiEOG7X9G64.
PhylomeDBiQ9HCM3.
TreeFamiTF332690.

Family and domain databases

InterProiIPR024606. DUF3827.
[Graphical view]
PANTHERiPTHR21590. PTHR21590. 1 hit.
PfamiPF12877. DUF3827. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative promoter usage and alternative splicing. Align

Isoform 1 (identifier: Q9HCM3-1) [UniParc]FASTAAdd to Basket

Also known as: v2 long-form

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
MPGARRRRRG AAMEGKPRAG VALAPGPSGR RPSARCARRR RPGLLLPGLW
60 70 80 90 100
LLLLARPASC APDELSPEQH NLSLYSMELV LKKSTGHSAA QVALTETAPG
110 120 130 140 150
SQHSSPLHVT APPSATTFDT AFFNQGKQTK STADPSIFVA TYVSVTSKEV
160 170 180 190 200
AVNDDEMDNF LPDTHWTTPR MVSPIQYITV SPPGLPREAL EPMLTPSLPM
210 220 230 240 250
VSLQDEEVTS GWQNTTRQPA AYAESASHFH TFRSAFRTSE GIVPTPGRNL
260 270 280 290 300
VLYPTDAYSH LSSRTLPEIV ASLTEGVETT LFLSSRSLMP QPLGDGITIP
310 320 330 340 350
LPSLGEVSQP PEEVWATSAD RYTDVTTVLS QSLEETISPR TYPTVTASHA
360 370 380 390 400
ALAFSRTHSP LLSTPLAFAS SASPTDVSSN PFLPSDSSKT SELHSNSALP
410 420 430 440 450
GPVDNTHILS PVSSFRPYTW CAACTVPSPQ QVLATSLMEK DVGSGDGAET
460 470 480 490 500
LCMTVLEESS ISLMSSVVAD FSEFEEDPQV FNTLFPSRPI VPLSSRSMEI
510 520 530 540 550
SETSVGISAE VDMSSVTTTQ VPPAHGRLSV PASLDPTAGS LSVAETQVTP
560 570 580 590 600
SSVTTAFFSV ITSILLDSSF SVIANKNTPS LAVRDPSVFT PYSLVPSVES
610 620 630 640 650
SLFSDQERSS FSEHKPRGAL DFASSFFSTP PLELSGSISS PSEAPASLSL
660 670 680 690 700
MPSDLSPFTS QSFSPLVETF TLFDSSDLQS SQLSLPSSTN LEFSQLQPSS
710 720 730 740 750
ELPLNTIMLL PSRSEVSPWS SFPSDSLEFV EASTVSLTDS EAHFTSAFIE
760 770 780 790 800
TTSYLESSLI SHESAVTALV PPGSESFDIL TAGIQATSPL TTVHTTPILT
810 820 830 840 850
ESSLFSTLTP PDDQISALDG HVSVLASFSK AIPTGTVLIT DAYLPSGSSF
860 870 880 890 900
VSEATPFPLP TELTVVGPSL TPTEVPLNTS TEVSTTSTGA ATGGPLDSTL
910 920 930 940 950
MGDAASQSPP ESSAAPPLPS LRPVTAFTLE ATVDTPTLAT AKPPYVCDIT
960 970 980 990 1000
VPDAYLITTV LARRAVQEYI ITAIKEVLRI HFNRAVELKV YELFTDFTFL
1010 1020 1030 1040 1050
VTSGPFVYTA ISVINVLINS KLVRDQTPLI LSVKPSFLVP ESRFQVQTVL
1060 1070 1080 1090 1100
QFVPPSVDTG FCNFTQRIEK GLMTALFEVR KHHQGTYNLT VQILNITISS
1110 1120 1130 1140 1150
SRVTPRRGPV NIIFAVKSTQ GFLNGSEVSE LLRNLSVVEF SFYLGYPVLQ
1160 1170 1180 1190 1200
IAEPFQYPQL NLSQLLKSSW VRTVLLGVME KQLQNEVFQA EMERKLAQLL
1210 1220 1230 1240 1250
SEVSTRRRMW RRATVAAGNS VVQVVNVSRL EGDDNPVQLI YFVEDQDGER
1260 1270 1280 1290 1300
LSAVKSSDLI NKMDLQRAAI ILGYRIQGVI AQPVDRVKRP SPESQSNNLW
1310 1320 1330 1340 1350
VIVGVVIPVL VVMVIVVILY WKLCRTDKLD FQPDTVANIQ QRQKLQIPSV
1360 1370 1380 1390 1400
KGFDFAKQHL GQHNKDDILI IHEPAPLPGP LKDHTTPSEN GDVPSPKSKI
1410 1420 1430 1440 1450
PSKNVRHRGR VSPSDADSTV SEESSERDAG DKTPGAVNDG RSHRAPQSGP
1460 1470 1480 1490 1500
PLPSSGNEQH SSASIFEHVD RISRPPEASR RVPSKIQLIA MQPIPAPPVQ
1510 1520 1530 1540 1550
RPSPADRVAE SNKINKEIQT ALRHKSEIEH HRNKIRLRAK RRGHYEFPVV
1560 1570 1580 1590 1600
DDLSSGDTKE RHRVYRRAQM QIDKILDPTA SVPSVFIEPR KSSRIKRSPK
1610 1620 1630 1640 1650
PRRKHQVNGC PADAEKDRLI TTDSDGTYRR PPGVHNSAYI GCPSDPDLPA
1660 1670 1680 1690 1700
DVQTPSSVEL GRYPALPFPA SQYIPPQPSI EEARQTMHSL LDDAFALVAP
1710 1720 1730 1740 1750
SSQPASTAGV GPGVPPGLPA NSTPSQEERR ATQWGSFYSP AQTANNPCSR
1760 1770 1780 1790 1800
YEDYGMTPPT GPLPRPGFGP GLLQSTELVP PDPQQPQASA EAPFAARGIY
1810 1820 1830 1840 1850
SEEMPSVARP RPVGGTTGSQ IQHLTQVGIA SRIGAQPVEI PPSRGSQYGG
1860 1870 1880 1890 1900
PGWPSYGEDE AGRREATHML GHQEYSSSPL FQVPRTSGRE PSAPSGNLPH
1910 1920 1930 1940 1950
RGLQGPGLGY PTSSTEDLQP GHSSASLIKA IREELLRLSQ KQSTVQNFHS
Length:1,950
Mass (Da):210,755
Last modified:April 5, 2011 - v4
Checksum:i3F7FD3A94CE4EE93
GO
Isoform 2 (identifier: Q9HCM3-2) [UniParc]FASTAAdd to Basket

Also known as: v1 long-form

The sequence of this isoform differs from the canonical sequence as follows:
     1867-1882: Missing.

Show »
Length:1,934
Mass (Da):208,911
Checksum:i9BF63EB0F22D2BFB
GO
Isoform 3 (identifier: Q9HCM3-3) [UniParc]FASTAAdd to Basket

Also known as: v1 short-form

The sequence of this isoform differs from the canonical sequence as follows:
     1-1216: Missing.
     1217-1222: AGNSVV → MVSAIF
     1867-1882: Missing.

Note: Produced by alternative promoter usage.

Show »
Length:718
Mass (Da):78,291
Checksum:i3D303D67C703FA9D
GO
Isoform 4 (identifier: Q9HCM3-4) [UniParc]FASTAAdd to Basket

Also known as: v2 short-form

The sequence of this isoform differs from the canonical sequence as follows:
     1-1216: Missing.
     1217-1222: AGNSVV → MVSAIF

Note: Produced by alternative promoter usage.

Show »
Length:734
Mass (Da):80,135
Checksum:iFB158E873F601E38
GO

Sequence cautioni

The sequence AAH38232.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti486 – 4861P → A in BAB13375. (PubMed:10997877)Curated
Sequence conflicti617 – 6171R → G in BAB13375. (PubMed:10997877)Curated
Sequence conflicti849 – 8491S → L in BAB13375. (PubMed:10997877)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti448 – 4481A → P.
Corresponds to variant rs2718131 [ dbSNP | Ensembl ].
VAR_044187
Natural varianti652 – 6521P → L.1 Publication
Corresponds to variant rs2774960 [ dbSNP | Ensembl ].
VAR_057812
Natural varianti851 – 8511V → G.
Corresponds to variant rs2354336 [ dbSNP | Ensembl ].
VAR_044188

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 12161216Missing in isoform 3 and isoform 4. 1 PublicationVSP_040885Add
BLAST
Alternative sequencei1217 – 12226AGNSVV → MVSAIF in isoform 3 and isoform 4. 1 PublicationVSP_040886
Alternative sequencei1867 – 188216Missing in isoform 2 and isoform 3. 3 PublicationsVSP_034448Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AM989467 Genomic DNA. Translation: CAQ43105.1.
AM989467 Genomic DNA. Translation: CAQ43106.1.
AM989468 mRNA. Translation: CAQ43107.1.
AM989469 mRNA. Translation: CAQ43108.1.
AM989470 mRNA. Translation: CAQ43109.1.
AM989471 mRNA. Translation: CAQ43110.1.
AM989472 mRNA. Translation: CAQ43111.1. Different termination.
AM989473 mRNA. Translation: CAQ43112.1. Different termination.
AM989474 mRNA. Translation: CAQ43113.1. Different termination.
AM989475 mRNA. Translation: CAQ43114.1. Different termination.
AM989476 mRNA. Translation: CAQ43115.1. Different termination.
AM989477 mRNA. Translation: CAQ43116.1. Different termination.
AC018663 Genomic DNA. No translation available.
AC083868 Genomic DNA. No translation available.
AC093144 Genomic DNA. No translation available.
AB046769 mRNA. Translation: BAB13375.2.
BC038232 mRNA. Translation: AAH38232.1. Different initiation.
BC091523 mRNA. Translation: AAH91523.1.
AL136736 mRNA. Translation: CAB66670.2.
CCDSiCCDS47723.2. [Q9HCM3-2]
CCDS56513.1. [Q9HCM3-1]
RefSeqiNP_001158137.1. NM_001164665.1. [Q9HCM3-1]
NP_065961.2. NM_020910.2. [Q9HCM3-2]
XP_006716135.1. XM_006716072.1. [Q9HCM3-3]
UniGeneiHs.605380.

Genome annotation databases

EnsembliENST00000422774; ENSP00000416040; ENSG00000122778. [Q9HCM3-1]
ENST00000440172; ENSP00000406661; ENSG00000122778. [Q9HCM3-2]
GeneIDi57670.
KEGGihsa:57670.
UCSCiuc011kqi.2. human. [Q9HCM3-3]
uc011kqj.2. human. [Q9HCM3-2]
uc011kqk.2. human. [Q9HCM3-4]
uc011kql.2. human. [Q9HCM3-1]

Polymorphism databases

DMDMi327478603.

Keywords - Coding sequence diversityi

Alternative promoter usage, Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AM989467 Genomic DNA. Translation: CAQ43105.1 .
AM989467 Genomic DNA. Translation: CAQ43106.1 .
AM989468 mRNA. Translation: CAQ43107.1 .
AM989469 mRNA. Translation: CAQ43108.1 .
AM989470 mRNA. Translation: CAQ43109.1 .
AM989471 mRNA. Translation: CAQ43110.1 .
AM989472 mRNA. Translation: CAQ43111.1 . Different termination.
AM989473 mRNA. Translation: CAQ43112.1 . Different termination.
AM989474 mRNA. Translation: CAQ43113.1 . Different termination.
AM989475 mRNA. Translation: CAQ43114.1 . Different termination.
AM989476 mRNA. Translation: CAQ43115.1 . Different termination.
AM989477 mRNA. Translation: CAQ43116.1 . Different termination.
AC018663 Genomic DNA. No translation available.
AC083868 Genomic DNA. No translation available.
AC093144 Genomic DNA. No translation available.
AB046769 mRNA. Translation: BAB13375.2 .
BC038232 mRNA. Translation: AAH38232.1 . Different initiation.
BC091523 mRNA. Translation: AAH91523.1 .
AL136736 mRNA. Translation: CAB66670.2 .
CCDSi CCDS47723.2. [Q9HCM3-2 ]
CCDS56513.1. [Q9HCM3-1 ]
RefSeqi NP_001158137.1. NM_001164665.1. [Q9HCM3-1 ]
NP_065961.2. NM_020910.2. [Q9HCM3-2 ]
XP_006716135.1. XM_006716072.1. [Q9HCM3-3 ]
UniGenei Hs.605380.

3D structure databases

ProteinModelPortali Q9HCM3.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121702. 14 interactions.
IntActi Q9HCM3. 13 interactions.
STRINGi 9606.ENSP00000242365.

PTM databases

PhosphoSitei Q9HCM3.

Polymorphism databases

DMDMi 327478603.

Proteomic databases

MaxQBi Q9HCM3.
PaxDbi Q9HCM3.
PRIDEi Q9HCM3.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000422774 ; ENSP00000416040 ; ENSG00000122778 . [Q9HCM3-1 ]
ENST00000440172 ; ENSP00000406661 ; ENSG00000122778 . [Q9HCM3-2 ]
GeneIDi 57670.
KEGGi hsa:57670.
UCSCi uc011kqi.2. human. [Q9HCM3-3 ]
uc011kqj.2. human. [Q9HCM3-2 ]
uc011kqk.2. human. [Q9HCM3-4 ]
uc011kql.2. human. [Q9HCM3-1 ]

Organism-specific databases

CTDi 57670.
GeneCardsi GC07M138516.
HGNCi HGNC:22219. KIAA1549.
HPAi HPA019560.
MIMi 613344. gene.
neXtProti NX_Q9HCM3.
Orphaneti 251612. Pilocytic astrocytoma.
PharmGKBi PA162393138.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG70685.
GeneTreei ENSGT00530000063472.
HOVERGENi HBG108038.
InParanoidi Q9HCM3.
OMAi MWRRATV.
OrthoDBi EOG7X9G64.
PhylomeDBi Q9HCM3.
TreeFami TF332690.

Miscellaneous databases

ChiTaRSi KIAA1549. human.
GenomeRNAii 57670.
NextBioi 2776.
SOURCEi Search...

Gene expression databases

Bgeei Q9HCM3.
CleanExi HS_KIAA1549.
Genevestigatori Q9HCM3.

Family and domain databases

InterProi IPR024606. DUF3827.
[Graphical view ]
PANTHERi PTHR21590. PTHR21590. 1 hit.
Pfami PF12877. DUF3827. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas."
    Jones D.T.W., Kocialkowski S., Liu L., Pearson D.M., Backlund L.M., Ichimura K., Collins V.P.
    Cancer Res. 68:8673-8677(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 2; 3 AND 4), DISEASE, CHROMOSOMAL REARRANGEMENT.
    Tissue: Brain.
  2. "The DNA sequence of human chromosome 7."
    Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
    , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
    Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.
    DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 70-1950 (ISOFORM 2), VARIANT LEU-652.
    Tissue: Brain.
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1128-1950 (ISOFORM 1).
    Tissue: Brain and Duodenum.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1811-1950 (ISOFORM 2).
    Tissue: Testis.
  6. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1395, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.

Entry informationi

Entry nameiK1549_HUMAN
AccessioniPrimary (citable) accession number: Q9HCM3
Secondary accession number(s): B6HY55
, B6HY56, B6HY58, B6HY60, B6HY61, B6HY62, B6HY63, B6HY64, B6HY65, B6HY66, Q5BJD6, Q8IY15, Q9H0M3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 2008
Last sequence update: April 5, 2011
Last modified: November 26, 2014
This is version 84 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
  6. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries

External Data

Dasty 3