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Q9UG01

- IF172_HUMAN

UniProt

Q9UG01 - IF172_HUMAN

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Protein
Intraflagellar transport protein 172 homolog
Gene
IFT172, KIAA1179
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Required for the maintenance and formation of cilia. Plays an indirect role in hedgehog (Hh) signaling, cilia being required for all activity of the hedgehog pathway By similarity.

GO - Biological processi

  1. cilium assembly Source: UniProtKB
  2. determination of left/right symmetry Source: Ensembl
  3. dorsal/ventral pattern formation Source: Ensembl
  4. neural tube formation Source: Ensembl
  5. protein processing Source: Ensembl
  6. smoothened signaling pathway Source: Ensembl
  7. spinal cord motor neuron differentiation Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Names & Taxonomyi

Protein namesi
Recommended name:
Intraflagellar transport protein 172 homolog
Gene namesi
Name:IFT172
Synonyms:KIAA1179
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:30391. IFT172.

Subcellular locationi

Cell projectioncilium
Note: Localized to the axoneme and around the base of the cilium.1 Publication

GO - Cellular componenti

  1. cilium Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium

Pathology & Biotechi

Involvement in diseasei

Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti296 – 2961R → W in SRTD10. 1 Publication
VAR_070956
Natural varianti411 – 4111I → N in SRTD10. 1 Publication
VAR_070957
Natural varianti464 – 4652Missing in SRTD10.
VAR_070958
Natural varianti1536 – 15361L → P in SRTD10. 1 Publication
VAR_070959
Natural varianti1544 – 15441R → C in SRTD10. 1 Publication
VAR_070960
Natural varianti1727 – 17271C → R in SRTD10. 1 Publication
VAR_070961

Keywords - Diseasei

Ciliopathy, Disease mutation

Organism-specific databases

MIMi615630. phenotype.
Orphaneti474. Jeune syndrome.
140969. Saldino-Mainzer syndrome.
PharmGKBiPA142671666.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 17491749Intraflagellar transport protein 172 homolog
PRO_0000328941Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionine1 Publication
Cross-linki4 – 4Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO-1)1 Publication

Keywords - PTMi

Acetylation, Isopeptide bond, Ubl conjugation

Proteomic databases

MaxQBiQ9UG01.
PaxDbiQ9UG01.
PRIDEiQ9UG01.

PTM databases

PhosphoSiteiQ9UG01.

Expressioni

Gene expression databases

ArrayExpressiQ9UG01.
BgeeiQ9UG01.
CleanExiHS_IFT172.
GenevestigatoriQ9UG01.

Organism-specific databases

HPAiHPA044893.

Interactioni

Subunit structurei

Interacts with IFT88 By similarity. Interacts with RABL2/RABL2A; binds preferentially to GDP-bound RABL2 By similarity.

Protein-protein interaction databases

BioGridi117589. 5 interactions.
IntActiQ9UG01. 6 interactions.
STRINGi9606.ENSP00000260570.

Structurei

3D structure databases

ProteinModelPortaliQ9UG01.
SMRiQ9UG01. Positions 236-312, 1107-1168, 1202-1250, 1276-1303.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati14 – 5340WD 1
Add
BLAST
Repeati64 – 10340WD 2
Add
BLAST
Repeati110 – 14839WD 3
Add
BLAST
Repeati150 – 19142WD 4
Add
BLAST
Repeati195 – 23339WD 5
Add
BLAST
Repeati238 – 27841WD 6
Add
BLAST
Repeati284 – 32340WD 7
Add
BLAST
Repeati483 – 52038WD 8
Add
BLAST
Repeati521 – 55939WD 9
Add
BLAST
Repeati593 – 62432TPR 1
Add
BLAST
Repeati692 – 72534TPR 2
Add
BLAST
Repeati809 – 84234TPR 3
Add
BLAST
Repeati854 – 88734TPR 4
Add
BLAST
Repeati912 – 94534TPR 5
Add
BLAST
Repeati947 – 97024TPR 6
Add
BLAST
Repeati971 – 100434TPR 7
Add
BLAST
Repeati1042 – 107534TPR 8
Add
BLAST
Repeati1142 – 117534TPR 9
Add
BLAST
Repeati1276 – 130934TPR 10
Add
BLAST
Repeati1345 – 137834TPR 11
Add
BLAST
Repeati1411 – 144535TPR 12
Add
BLAST
Repeati1447 – 147731TPR 13
Add
BLAST
Repeati1574 – 160734TPR 14
Add
BLAST

Sequence similaritiesi

Belongs to the IFT172 family.
Contains 14 TPR repeats.
Contains 9 WD repeats.

Keywords - Domaini

Repeat, TPR repeat, WD repeat

Phylogenomic databases

eggNOGiNOG289811.
HOGENOMiHOG000259226.
HOVERGENiHBG098449.
InParanoidiQ9UG01.
OMAiKLRLHLY.
OrthoDBiEOG7FJGZM.
PhylomeDBiQ9UG01.
TreeFamiTF312901.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
InterProiIPR016024. ARM-type_fold.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
SMARTiSM00320. WD40. 7 hits.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 1 hit.
SSF50978. SSF50978. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9UG01-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MHLKHLRTLL SPQDGAAKVT CMAWSQNNAK FAVCTVDRVV LLYDEHGERR     50
DKFSTKPADM KYGRKSYMVK GMAFSPDSTK IAIGQTDNII YVYKIGEDWG 100
DKKVICNKFI QTSAVTCLQW PAEYIIVFGL AEGKVRLANT KTNKSSTIYG 150
TESYVVSLTT NCSGKGILSG HADGTIVRYF FDDEGSGESQ GKLVNHPCPP 200
YALAWATNSI VAAGCDRKIV AYGKEGHMLQ TFDYSRDPQE REFTTAVSSP 250
GGQSVVLGSY DRLRVFNWIP RRSIWEEAKP KEITNLYTIT ALAWKRDGSR 300
LCVGTLCGGV EQFDCCLRRS IYKNKFELTY VGPSQVIVKN LSSGTRVVLK 350
SHYGYEVEEV KILGKERYLV AHTSETLLLG DLNTNRLSEI AWQGSGGNEK 400
YFFENENVCM IFNAGELTLV EYGNNDTLGS VRTEFMNPHL ISVRINERCQ 450
RGTEDNKKLA YLIDIKTIAI VDLIGGYNIG TVSHESRVDW LELNETGHKL 500
LFRDRKLRLH LYDIESCSKT MILNFCSYMQ WVPGSDVLVA QNRNSLCVWY 550
NIEAPERVTM FTIRGDVIGL ERGGGKTEVM VMEGVTTVAY TLDEGLIEFG 600
TAIDDGNYIR ATAFLETLEM TPETEAMWKT LSKLALEARQ LHIAERCFSA 650
LGQVAKARFL HETNEIADQV SREYGGEGTD FYQVRARLAM LEKNYKLAEM 700
IFLEQNAVEE AMGMYQELHR WDECIAVAEA KGHPALEKLR RSYYQWLMDT 750
QQEERAGELQ ESQGDGLAAI SLYLKAGLPA KAARLVLTRE ELLANTELVE 800
HITAALIKGE LYERAGDLFE KIHNPQKALE CYRKGNAFMK AVELARLAFP 850
VEVVKLEEAW GDHLVQQKQL DAAINHYIEA RCSIKAIEAA LGARQWKKAI 900
YILDLQDRNT ASKYYPLVAQ HYASLQEYEI AEELYTKGDR TKDAIDMYTQ 950
AGRWEQAHKL AMKCMRPEDV SVLYITQAQE MEKQGKYREA ERLYVTVQEP 1000
DLAITMYKKH KLYDDMIRLV GKHHPDLLSD THLHLGKELE AEGRLQEAEY 1050
HYLEAQEWKA TVNMYRASGL WEEAYRVART QGGANAHKHV AYLWAKSLGG 1100
EAAVRLLNKL GLLEAAVDHA ADNCSFEFAF ELSRLALKHK TPEVHLKYAM 1150
FLEDEGKFEE AEAEFIRAGK PKEAVLMFVH NQDWEAAQRV AEAHDPDSVA 1200
EVLVGQARGA LEEKDFQKAE GLLLRAQRPG LALNYYKEAG LWSDALRICK 1250
DYVPSQLEAL QEEYEREATK KGARGVEGFV EQARHWEQAG EYSRAVDCYL 1300
KVRDSGNSGL AEKCWMKAAE LSIKFLPPQR NMEVVLAVGP QLIGIGKHSA 1350
AAELYLNLDL VKEAIDAFIE GEEWNKAKRV AKELDPRYED YVDQHYKEFL 1400
KNQGKVDSLV GVDVIAALDL YVEQGQWDKC IETATKQNYK ILHKYVALYA 1450
THLIREGSSA QALALYVQHG APANPQNFNI YKRIFTDMVS SPGTNCAEAY 1500
HSWADLRDVL FNLCENLVKS SEANSPAHEE FKTMLLIAHY YATRSAAQSV 1550
KQLETVAARL SVSLLRHTQL LPVDKAFYEA GIAAKAVGWD NMAFIFLNRF 1600
LDLTDAIEEG TLDGLDHSDF QDTDIPFEVP LPAKQHVPEA EREEVRDWVL 1650
TVSMDQRLEQ VLPRDERGAY EASLVAASTG VRALPCLITG YPILRNKIEF 1700
KRPGKAANKD NWNKFLMAIK TSHSPVCQDV LKFISQWCGG LPSTSFSFQ 1749
Length:1,749
Mass (Da):197,576
Last modified:April 8, 2008 - v2
Checksum:i78AA83802D79E3CE
GO
Isoform 2 (identifier: Q9UG01-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1514-1525: CENLVKSSEANS → AVLSPSSSVKTW
     1526-1749: Missing.

Note: No experimental confirmation available.

Show »
Length:1,525
Mass (Da):172,438
Checksum:i0F5C5D89B95F6B0F
GO
Isoform 3 (identifier: Q9UG01-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     509-532: LHLYDIESCSKTMILNFCSYMQWV → VRRATKALGIGWPTEGVRQAATRD
     533-1749: Missing.

Note: No experimental confirmation available.

Show »
Length:532
Mass (Da):59,659
Checksum:i73321ACEDA74FF52
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti296 – 2961R → W in SRTD10. 1 Publication
VAR_070956
Natural varianti411 – 4111I → N in SRTD10. 1 Publication
VAR_070957
Natural varianti464 – 4652Missing in SRTD10.
VAR_070958
Natural varianti953 – 9531R → H.
Corresponds to variant rs704793 [ dbSNP | Ensembl ].
VAR_042581
Natural varianti1536 – 15361L → P in SRTD10. 1 Publication
VAR_070959
Natural varianti1544 – 15441R → C in SRTD10. 1 Publication
VAR_070960
Natural varianti1727 – 17271C → R in SRTD10. 1 Publication
VAR_070961

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei509 – 53224LHLYD…YMQWV → VRRATKALGIGWPTEGVRQA ATRD in isoform 3.
VSP_054428Add
BLAST
Alternative sequencei533 – 17491217Missing in isoform 3.
VSP_054429Add
BLAST
Alternative sequencei1514 – 152512CENLV…SEANS → AVLSPSSSVKTW in isoform 2.
VSP_032848Add
BLAST
Alternative sequencei1526 – 1749224Missing in isoform 2.
VSP_032849Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1475 – 14751P → L in CAB55914. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AC074117 Genomic DNA. No translation available.
CH471053 Genomic DNA. Translation: EAX00573.1.
BC008024 mRNA. Translation: AAH08024.1.
BC047294 mRNA. Translation: AAH47294.1.
BC137126 mRNA. Translation: AAI37127.1.
BC142675 mRNA. Translation: AAI42676.1.
BC142729 mRNA. Translation: AAI42730.1.
AL110218 mRNA. Translation: CAB53678.1.
AL117421 mRNA. Translation: CAB55914.2.
AB033005 mRNA. Translation: BAA86493.1.
CCDSiCCDS1755.1. [Q9UG01-1]
PIRiT14758.
T17224.
RefSeqiNP_056477.1. NM_015662.2. [Q9UG01-1]
UniGeneiHs.127401.

Genome annotation databases

EnsembliENST00000260570; ENSP00000260570; ENSG00000138002. [Q9UG01-1]
ENST00000359466; ENSP00000352443; ENSG00000138002.
GeneIDi26160.
KEGGihsa:26160.
UCSCiuc002rku.3. human. [Q9UG01-1]

Polymorphism databases

DMDMi182662418.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AC074117 Genomic DNA. No translation available.
CH471053 Genomic DNA. Translation: EAX00573.1 .
BC008024 mRNA. Translation: AAH08024.1 .
BC047294 mRNA. Translation: AAH47294.1 .
BC137126 mRNA. Translation: AAI37127.1 .
BC142675 mRNA. Translation: AAI42676.1 .
BC142729 mRNA. Translation: AAI42730.1 .
AL110218 mRNA. Translation: CAB53678.1 .
AL117421 mRNA. Translation: CAB55914.2 .
AB033005 mRNA. Translation: BAA86493.1 .
CCDSi CCDS1755.1. [Q9UG01-1 ]
PIRi T14758.
T17224.
RefSeqi NP_056477.1. NM_015662.2. [Q9UG01-1 ]
UniGenei Hs.127401.

3D structure databases

ProteinModelPortali Q9UG01.
SMRi Q9UG01. Positions 236-312, 1107-1168, 1202-1250, 1276-1303.
ModBasei Search...

Protein-protein interaction databases

BioGridi 117589. 5 interactions.
IntActi Q9UG01. 6 interactions.
STRINGi 9606.ENSP00000260570.

PTM databases

PhosphoSitei Q9UG01.

Polymorphism databases

DMDMi 182662418.

Proteomic databases

MaxQBi Q9UG01.
PaxDbi Q9UG01.
PRIDEi Q9UG01.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000260570 ; ENSP00000260570 ; ENSG00000138002 . [Q9UG01-1 ]
ENST00000359466 ; ENSP00000352443 ; ENSG00000138002 .
GeneIDi 26160.
KEGGi hsa:26160.
UCSCi uc002rku.3. human. [Q9UG01-1 ]

Organism-specific databases

CTDi 26160.
GeneCardsi GC02M027667.
H-InvDB HIX0001924.
HIX0119024.
HGNCi HGNC:30391. IFT172.
HPAi HPA044893.
MIMi 607386. gene.
615630. phenotype.
neXtProti NX_Q9UG01.
Orphaneti 474. Jeune syndrome.
140969. Saldino-Mainzer syndrome.
PharmGKBi PA142671666.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG289811.
HOGENOMi HOG000259226.
HOVERGENi HBG098449.
InParanoidi Q9UG01.
OMAi KLRLHLY.
OrthoDBi EOG7FJGZM.
PhylomeDBi Q9UG01.
TreeFami TF312901.

Miscellaneous databases

ChiTaRSi IFT172. human.
GenomeRNAii 26160.
NextBioi 35462254.
PROi Q9UG01.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9UG01.
Bgeei Q9UG01.
CleanExi HS_IFT172.
Genevestigatori Q9UG01.

Family and domain databases

Gene3Di 2.130.10.10. 1 hit.
InterProi IPR016024. ARM-type_fold.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view ]
SMARTi SM00320. WD40. 7 hits.
[Graphical view ]
SUPFAMi SSF48371. SSF48371. 1 hit.
SSF50978. SSF50978. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  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] (ISOFORMS 1 AND 3).
    Tissue: Brain and Lung.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 97-1749 (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1203-1737 (ISOFORM 2).
    Tissue: Testis.
  5. "Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain."
    Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O.
    DNA Res. 6:329-336(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 660-1749 (ISOFORM 1).
    Tissue: Brain.
  6. "In vivo identification of sumoylation sites by a signature tag and cysteine-targeted affinity purification."
    Blomster H.A., Imanishi S.Y., Siimes J., Kastu J., Morrice N.A., Eriksson J.E., Sistonen L.
    J. Biol. Chem. 285:19324-19329(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUMOYLATION AT LYS-4, ACETYLATION AT MET-1.
    Tissue: Cervix carcinoma.
  7. Cited for: SUBCELLULAR LOCATION, VARIANTS SRTD10 TRP-296; ASN-411; 464-ASP-ILE-465 DEL; PRO-1536; CYS-1544 AND ARG-1727.

Entry informationi

Entry nameiIF172_HUMAN
AccessioniPrimary (citable) accession number: Q9UG01
Secondary accession number(s): A5PKZ0
, B2RNU5, Q86X44, Q96HW4, Q9UFJ9, Q9ULP1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: April 8, 2008
Last modified: July 9, 2014
This is version 97 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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

External Data

Dasty 3

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