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Protein

Intraflagellar transport protein 172 homolog

Gene

IFT172

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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).By similarity

GO - Biological processi

  1. bone development Source: Ensembl
  2. brain development Source: Ensembl
  3. cilium assembly Source: UniProtKB
  4. cytoplasmic microtubule organization Source: Ensembl
  5. dorsal/ventral pattern formation Source: Ensembl
  6. epidermis development Source: Ensembl
  7. heart looping Source: Ensembl
  8. hindgut development Source: Ensembl
  9. left/right axis specification Source: Ensembl
  10. limb development Source: Ensembl
  11. negative regulation of epithelial cell proliferation Source: Ensembl
  12. neural tube closure Source: Ensembl
  13. Notch signaling pathway Source: Ensembl
  14. palate development Source: Ensembl
  15. positive regulation of smoothened signaling pathway Source: Ensembl
  16. protein processing Source: Ensembl
  17. smoothened signaling pathway Source: Ensembl
  18. spinal cord motor neuron differentiation Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Enzyme and pathway databases

ReactomeiREACT_267634. Hedgehog 'off' state.

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

GO - Cellular componenti

  1. axoneme Source: GO_Central
  2. ciliary basal body Source: GO_Central
  3. cilium Source: UniProtKB
  4. intraciliary transport particle B Source: UniProtKB
  5. sperm midpiece Source: Ensembl
  6. sperm principal piece Source: Ensembl
  7. vesicle Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium

Pathology & Biotechi

Involvement in diseasei

Short-rib thoracic dysplasia 10 with or without polydactyly1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:615630
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. 1 Publication
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 homologPRO_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)

Keywords - PTMi

Acetylation, Isopeptide bond, Ubl conjugation

Proteomic databases

MaxQBiQ9UG01.
PaxDbiQ9UG01.
PRIDEiQ9UG01.

PTM databases

PhosphoSiteiQ9UG01.

Expressioni

Gene expression databases

BgeeiQ9UG01.
CleanExiHS_IFT172.
ExpressionAtlasiQ9UG01. baseline and differential.
GenevestigatoriQ9UG01.

Organism-specific databases

HPAiHPA044893.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi117589. 7 interactions.
IntActiQ9UG01. 6 interactions.
STRINGi9606.ENSP00000260570.

Structurei

3D structure databases

ProteinModelPortaliQ9UG01.
SMRiQ9UG01. Positions 357-387, 603-648, 1030-1055, 1141-1168.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

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

Keywords - Domaini

Repeat, TPR repeat, WD repeat

Phylogenomic databases

eggNOGiNOG289811.
GeneTreeiENSGT00440000033648.
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

        10         20         30         40         50
MHLKHLRTLL SPQDGAAKVT CMAWSQNNAK FAVCTVDRVV LLYDEHGERR
60 70 80 90 100
DKFSTKPADM KYGRKSYMVK GMAFSPDSTK IAIGQTDNII YVYKIGEDWG
110 120 130 140 150
DKKVICNKFI QTSAVTCLQW PAEYIIVFGL AEGKVRLANT KTNKSSTIYG
160 170 180 190 200
TESYVVSLTT NCSGKGILSG HADGTIVRYF FDDEGSGESQ GKLVNHPCPP
210 220 230 240 250
YALAWATNSI VAAGCDRKIV AYGKEGHMLQ TFDYSRDPQE REFTTAVSSP
260 270 280 290 300
GGQSVVLGSY DRLRVFNWIP RRSIWEEAKP KEITNLYTIT ALAWKRDGSR
310 320 330 340 350
LCVGTLCGGV EQFDCCLRRS IYKNKFELTY VGPSQVIVKN LSSGTRVVLK
360 370 380 390 400
SHYGYEVEEV KILGKERYLV AHTSETLLLG DLNTNRLSEI AWQGSGGNEK
410 420 430 440 450
YFFENENVCM IFNAGELTLV EYGNNDTLGS VRTEFMNPHL ISVRINERCQ
460 470 480 490 500
RGTEDNKKLA YLIDIKTIAI VDLIGGYNIG TVSHESRVDW LELNETGHKL
510 520 530 540 550
LFRDRKLRLH LYDIESCSKT MILNFCSYMQ WVPGSDVLVA QNRNSLCVWY
560 570 580 590 600
NIEAPERVTM FTIRGDVIGL ERGGGKTEVM VMEGVTTVAY TLDEGLIEFG
610 620 630 640 650
TAIDDGNYIR ATAFLETLEM TPETEAMWKT LSKLALEARQ LHIAERCFSA
660 670 680 690 700
LGQVAKARFL HETNEIADQV SREYGGEGTD FYQVRARLAM LEKNYKLAEM
710 720 730 740 750
IFLEQNAVEE AMGMYQELHR WDECIAVAEA KGHPALEKLR RSYYQWLMDT
760 770 780 790 800
QQEERAGELQ ESQGDGLAAI SLYLKAGLPA KAARLVLTRE ELLANTELVE
810 820 830 840 850
HITAALIKGE LYERAGDLFE KIHNPQKALE CYRKGNAFMK AVELARLAFP
860 870 880 890 900
VEVVKLEEAW GDHLVQQKQL DAAINHYIEA RCSIKAIEAA LGARQWKKAI
910 920 930 940 950
YILDLQDRNT ASKYYPLVAQ HYASLQEYEI AEELYTKGDR TKDAIDMYTQ
960 970 980 990 1000
AGRWEQAHKL AMKCMRPEDV SVLYITQAQE MEKQGKYREA ERLYVTVQEP
1010 1020 1030 1040 1050
DLAITMYKKH KLYDDMIRLV GKHHPDLLSD THLHLGKELE AEGRLQEAEY
1060 1070 1080 1090 1100
HYLEAQEWKA TVNMYRASGL WEEAYRVART QGGANAHKHV AYLWAKSLGG
1110 1120 1130 1140 1150
EAAVRLLNKL GLLEAAVDHA ADNCSFEFAF ELSRLALKHK TPEVHLKYAM
1160 1170 1180 1190 1200
FLEDEGKFEE AEAEFIRAGK PKEAVLMFVH NQDWEAAQRV AEAHDPDSVA
1210 1220 1230 1240 1250
EVLVGQARGA LEEKDFQKAE GLLLRAQRPG LALNYYKEAG LWSDALRICK
1260 1270 1280 1290 1300
DYVPSQLEAL QEEYEREATK KGARGVEGFV EQARHWEQAG EYSRAVDCYL
1310 1320 1330 1340 1350
KVRDSGNSGL AEKCWMKAAE LSIKFLPPQR NMEVVLAVGP QLIGIGKHSA
1360 1370 1380 1390 1400
AAELYLNLDL VKEAIDAFIE GEEWNKAKRV AKELDPRYED YVDQHYKEFL
1410 1420 1430 1440 1450
KNQGKVDSLV GVDVIAALDL YVEQGQWDKC IETATKQNYK ILHKYVALYA
1460 1470 1480 1490 1500
THLIREGSSA QALALYVQHG APANPQNFNI YKRIFTDMVS SPGTNCAEAY
1510 1520 1530 1540 1550
HSWADLRDVL FNLCENLVKS SEANSPAHEE FKTMLLIAHY YATRSAAQSV
1560 1570 1580 1590 1600
KQLETVAARL SVSLLRHTQL LPVDKAFYEA GIAAKAVGWD NMAFIFLNRF
1610 1620 1630 1640 1650
LDLTDAIEEG TLDGLDHSDF QDTDIPFEVP LPAKQHVPEA EREEVRDWVL
1660 1670 1680 1690 1700
TVSMDQRLEQ VLPRDERGAY EASLVAASTG VRALPCLITG YPILRNKIEF
1710 1720 1730 1740
KRPGKAANKD NWNKFLMAIK TSHSPVCQDV LKFISQWCGG LPSTSFSFQ
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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1475 – 14751P → L in CAB55914. (PubMed:17974005)Curated

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. 1 Publication
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. 1 PublicationVSP_054428Add
BLAST
Alternative sequencei533 – 17491217Missing in isoform 3. 1 PublicationVSP_054429Add
BLAST
Alternative sequencei1514 – 152512CENLV…SEANS → AVLSPSSSVKTW in isoform 2. 1 PublicationVSP_032848Add
BLAST
Alternative sequencei1526 – 1749224Missing in isoform 2. 1 PublicationVSP_032849Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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. [Q9UG01-3]
GeneIDi26160.
KEGGihsa:26160.
UCSCiuc002rku.3. human. [Q9UG01-1]
uc010ezc.3. human.

Polymorphism databases

DMDMi182662418.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ9UG01.
SMRiQ9UG01. Positions 357-387, 603-648, 1030-1055, 1141-1168.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117589. 7 interactions.
IntActiQ9UG01. 6 interactions.
STRINGi9606.ENSP00000260570.

PTM databases

PhosphoSiteiQ9UG01.

Polymorphism databases

DMDMi182662418.

Proteomic databases

MaxQBiQ9UG01.
PaxDbiQ9UG01.
PRIDEiQ9UG01.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000260570; ENSP00000260570; ENSG00000138002. [Q9UG01-1]
ENST00000359466; ENSP00000352443; ENSG00000138002. [Q9UG01-3]
GeneIDi26160.
KEGGihsa:26160.
UCSCiuc002rku.3. human. [Q9UG01-1]
uc010ezc.3. human.

Organism-specific databases

CTDi26160.
GeneCardsiGC02M027667.
H-InvDBHIX0001924.
HIX0119024.
HGNCiHGNC:30391. IFT172.
HPAiHPA044893.
MIMi607386. gene.
615630. phenotype.
neXtProtiNX_Q9UG01.
Orphaneti474. Jeune syndrome.
140969. Saldino-Mainzer syndrome.
PharmGKBiPA142671666.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG289811.
GeneTreeiENSGT00440000033648.
HOGENOMiHOG000259226.
HOVERGENiHBG098449.
InParanoidiQ9UG01.
OMAiKLRLHLY.
OrthoDBiEOG7FJGZM.
PhylomeDBiQ9UG01.
TreeFamiTF312901.

Enzyme and pathway databases

ReactomeiREACT_267634. Hedgehog 'off' state.

Miscellaneous databases

ChiTaRSiIFT172. human.
GenomeRNAii26160.
NextBioi35462254.
PROiQ9UG01.
SOURCEiSearch...

Gene expression databases

BgeeiQ9UG01.
CleanExiHS_IFT172.
ExpressionAtlasiQ9UG01. baseline and differential.
GenevestigatoriQ9UG01.

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.
ProtoNetiSearch...

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: February 4, 2015
This is version 102 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.