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Protein

Intraflagellar transport protein 140 homolog

Gene

IFT140

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

Functioni

Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport. Plays a pivotal role in proper development and function of ciliated cells. Involved in ciliogenesis and cilia maintenance.1 Publication

GO - Biological processi

  • cilium assembly Source: Ensembl
  • determination of left/right symmetry Source: Ensembl
  • heart development Source: Ensembl
  • intraciliary retrograde transport Source: GO_Central
  • limb morphogenesis Source: Ensembl
  • neural tube patterning Source: Ensembl
  • photoreceptor cell outer segment organization Source: Ensembl
  • protein localization to cilium Source: UniProtKB
  • regulation of cilium assembly Source: UniProtKB
  • regulation of smoothened signaling pathway Source: Ensembl
  • renal system development Source: UniProtKB
  • retina development in camera-type eye Source: UniProtKB
  • skeletal system morphogenesis Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Enzyme and pathway databases

BioCyciZFISH:G66-32004-MONOMER.
ReactomeiR-HSA-5610787. Hedgehog 'off' state.
R-HSA-5620924. Intraflagellar transport.
SignaLinkiQ96RY7.

Names & Taxonomyi

Protein namesi
Recommended name:
Intraflagellar transport protein 140 homolog
Alternative name(s):
WD and tetratricopeptide repeats protein 2
Gene namesi
Name:IFT140
Synonyms:KIAA0590, WDTC2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:29077. IFT140.

Subcellular locationi

GO - Cellular componenti

  • axoneme Source: UniProtKB
  • centrosome Source: UniProtKB
  • ciliary basal body Source: UniProtKB
  • ciliary tip Source: Reactome
  • cytoplasm Source: UniProtKB-KW
  • intraciliary transport particle A Source: UniProtKB
  • photoreceptor connecting cilium Source: Ensembl
  • photoreceptor outer segment Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9)2 Publications
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. SRTD9 is characterized by phalangeal cone-shaped epiphyses, chronic renal disease, nearly constant retinal dystrophy, and mild radiographic abnormality of the proximal femur. Occasional features include short stature, cerebellar ataxia, and hepatic fibrosis.
See also OMIM:266920
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071000152L → F in SRTD9. 1 Publication1
Natural variantiVAR_068523212G → R in SRTD9; partial to complete loss of basal body localization and increase of cytoplasmic localization. 1 PublicationCorresponds to variant rs201188361dbSNPEnsembl.1
Natural variantiVAR_068524233I → M in SRTD9. 1 Publication1
Natural variantiVAR_071003267E → G in SRTD9; disease phenotype consistent with Mainzer-Saldino syndrome. 1 Publication1
Natural variantiVAR_068525292V → M in SRTD9; impairs centrosomal localization. 2 PublicationsCorresponds to variant rs431905521dbSNPEnsembl.1
Natural variantiVAR_068526311Y → C in SRTD9; partial to complete loss of basal body localization and increase of cytoplasmic localization. 1 PublicationCorresponds to variant rs387907193dbSNPEnsembl.1
Natural variantiVAR_068527522G → E in SRTD9. 2 PublicationsCorresponds to variant rs199826737dbSNPEnsembl.1
Natural variantiVAR_068528576R → Q in SRTD9. 1 PublicationCorresponds to variant rs373111085dbSNPEnsembl.1
Natural variantiVAR_068529664E → K in SRTD9; partial to complete loss of basal body localization and increase of cytoplasmic localization. 1 PublicationCorresponds to variant rs387907192dbSNPEnsembl.1
Natural variantiVAR_0710081360C → R in SRTD9; disease phenotype consistent with Mainzer-Saldino syndrome. 1 PublicationCorresponds to variant rs431905520dbSNPEnsembl.1

Keywords - Diseasei

Ciliopathy, Disease mutation

Organism-specific databases

DisGeNETi9742.
MalaCardsiIFT140.
MIMi266920. phenotype.
OpenTargetsiENSG00000187535.
Orphaneti474. Jeune syndrome.
140969. Saldino-Mainzer syndrome.
PharmGKBiPA142671665.

Polymorphism and mutation databases

BioMutaiIFT140.
DMDMi74761083.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000510461 – 1462Intraflagellar transport protein 140 homologAdd BLAST1462

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei360PhosphoserineCombined sources1
Modified residuei1443PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96RY7.
MaxQBiQ96RY7.
PaxDbiQ96RY7.
PeptideAtlasiQ96RY7.
PRIDEiQ96RY7.

PTM databases

iPTMnetiQ96RY7.
PhosphoSitePlusiQ96RY7.

Expressioni

Gene expression databases

BgeeiENSG00000187535.
CleanExiHS_IFT140.
ExpressionAtlasiQ96RY7. baseline and differential.
GenevisibleiQ96RY7. HS.

Organism-specific databases

HPAiHPA042197.

Interactioni

Subunit structurei

Component of the IFT complex A (IFT-A).1 Publication

Protein-protein interaction databases

BioGridi115090. 13 interactors.
IntActiQ96RY7. 16 interactors.
MINTiMINT-8247576.
STRINGi9606.ENSP00000406012.

Structurei

3D structure databases

ProteinModelPortaliQ96RY7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati13 – 57WD 1Add BLAST45
Repeati59 – 98WD 2Add BLAST40
Repeati101 – 140WD 3Add BLAST40
Repeati263 – 313WD 4Add BLAST51
Repeati322 – 361WD 5Add BLAST40
Repeati772 – 807TPR 1Add BLAST36
Repeati869 – 904TPR 2Add BLAST36
Repeati906 – 934TPR 3Add BLAST29
Repeati955 – 988TPR 4Add BLAST34
Repeati1010 – 1043TPR 5Add BLAST34
Repeati1078 – 1111TPR 6Add BLAST34
Repeati1123 – 1156TPR 7Add BLAST34
Repeati1189 – 1222TPR 8Add BLAST34
Repeati1376 – 1409TPR 9Add BLAST34

Sequence similaritiesi

Contains 9 TPR repeats.Curated
Contains 5 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, TPR repeat, WD repeat

Phylogenomic databases

eggNOGiKOG3617. Eukaryota.
ENOG410XSS4. LUCA.
GeneTreeiENSGT00390000007515.
HOGENOMiHOG000230867.
HOVERGENiHBG055589.
InParanoidiQ96RY7.
KOiK19672.
OMAiYNNAIRL.
OrthoDBiEOG091G00FU.
PhylomeDBiQ96RY7.
TreeFamiTF105851.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
SMARTiSM00320. WD40. 3 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 4 hits.
PROSITEiPS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96RY7-1) [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
MALYYDHQIE APDAAGSPSF ISWHPVHPFL AVAYISTTST GSVDIYLEQG
60 70 80 90 100
ECVPDTHVER PFRVASLCWH PTRLVLAVGW ETGEVTVFNK QDKEQHTMPL
110 120 130 140 150
THTADITVLR WSPSGNCLLS GDRLGVLLLW RLDQRGRVQG TPLLKHEYGK
160 170 180 190 200
HLTHCIFRLP PPGEDLVQLA KAAVSGDEKA LDMFNWKKSS SGSLLKMGSH
210 220 230 240 250
EGLLFFVSLM DGTVHYVDEK GKTTQVVSAD STIQMLFYME KREALVVVTE
260 270 280 290 300
NLRLSLYTVP PEGKAEEVMK VKLSGKTGRR ADIALIEGSL LVMAVGEAAL
310 320 330 340 350
RFWDIERGEN YILSPDEKFG FEKGENMNCV CYCKVKGLLA AGTDRGRVAM
360 370 380 390 400
WRKVPDFLGS PGAEGKDRWA LQTPTELQGN ITQIQWGSRK NLLAVNSVIS
410 420 430 440 450
VAILSERAMS SHFHQQVAAM QVSPSLLNVC FLSTGVAHSL RTDMHISGVF
460 470 480 490 500
ATKDAVAVWN GRQVAIFELS GAAIRSAGTF LCETPVLAMH EENVYTVESN
510 520 530 540 550
RVQVRTWQGT VKQLLLFSET EGNPCFLDIC GNFLVVGTDL AHFKSFDLSR
560 570 580 590 600
REAKAHCSCR SLAELVPGVG GIASLRCSSS GSTISILPSK ADNSPDSKIC
610 620 630 640 650
FYDVEMDTVT VFDFKTGQID RRETLSFNEQ ETNKSHLFVD EGLKNYVPVN
660 670 680 690 700
HFWDQSEPRL FVCEAVQETP RSQPQSANGQ PQDGRAGPAA DVLILSFFIS
710 720 730 740 750
EEHGFLLHES FPRPATSHSL LGMEVPYYYF TRKPEEADRE DEVEPGCHHI
760 770 780 790 800
PQMVSRRPLR DFVGLEDCDK ATRDAMLHFS FFVTIGDMDE AFKSIKLIKS
810 820 830 840 850
EAVWENMARM CVKTQRLDVA KVCLGNMGHA RGARALREAE QEPELEARVA
860 870 880 890 900
VLATQLGMLE DAEQLYRKCK RHDLLNKFYQ AAGRWQEALQ VAEHHDRVHL
910 920 930 940 950
RSTYHRYAGH LEASADCSRA LSYYEKSDTH RFEVPRMLSE DLPSLELYVN
960 970 980 990 1000
KMKDKTLWRW WAQYLESQGE MDAALHYYEL ARDHFSLVRI HCFQGNVQKA
1010 1020 1030 1040 1050
AQIANETGNL AASYHLARQY ESQEEVGQAV HFYTRAQAFK NAIRLCKENG
1060 1070 1080 1090 1100
LDDQLMNLAL LSSPEDMIEA ARYYEEKGVQ MDRAVMLYHK AGHFSKALEL
1110 1120 1130 1140 1150
AFATQQFVAL QLIAEDLDET SDPALLARCS DFFIEHSQYE RAVELLLAAR
1160 1170 1180 1190 1200
KYQEALQLCL GQNMSITEEM AEKMTVAKDS SDLPEESRRE LLEQIADCCM
1210 1220 1230 1240 1250
RQGSYHLATK KYTQAGNKLK AMRALLKSGD TEKITFFASV SRQKEIYIMA
1260 1270 1280 1290 1300
ANYLQSLDWR KEPEIMKNII GFYTKGRALD LLAGFYDACA QVEIDEYQNY
1310 1320 1330 1340 1350
DKAHGALTEA YKCLAKAKAK SPLDQETRLA QLQSRMALVK RFIQARRTYT
1360 1370 1380 1390 1400
EDPKESIKQC ELLLEEPDLD STIRIGDVYG FLVEHYVRKE EYQTAYRFLE
1410 1420 1430 1440 1450
EMRRRLPLAN MSYYVSPQAV DAVHRGLGLP LPRTVPEQVR HNSMEDAREL
1460
DEEVVEEADD DP
Length:1,462
Mass (Da):165,193
Last modified:December 1, 2001 - v1
Checksum:i2F3CCBD998F80E3B
GO
Isoform 2 (identifier: Q96RY7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-806: Missing.

Note: No experimental confirmation available.
Show »
Length:656
Mass (Da):75,572
Checksum:iA5D5629CAA150DC0
GO

Sequence cautioni

The sequence BAA25516 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti542H → L in BAA25516 (PubMed:9628581).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070999110R → H.1 PublicationCorresponds to variant rs371077545dbSNPEnsembl.1
Natural variantiVAR_071000152L → F in SRTD9. 1 Publication1
Natural variantiVAR_071001161P → T.1 PublicationCorresponds to variant rs148462329dbSNPEnsembl.1
Natural variantiVAR_053396165D → A.Corresponds to variant rs35588860dbSNPEnsembl.1
Natural variantiVAR_068523212G → R in SRTD9; partial to complete loss of basal body localization and increase of cytoplasmic localization. 1 PublicationCorresponds to variant rs201188361dbSNPEnsembl.1
Natural variantiVAR_068524233I → M in SRTD9. 1 Publication1
Natural variantiVAR_071002243E → G.1 PublicationCorresponds to variant rs539181813dbSNPEnsembl.1
Natural variantiVAR_071003267E → G in SRTD9; disease phenotype consistent with Mainzer-Saldino syndrome. 1 Publication1
Natural variantiVAR_053397279R → P.Corresponds to variant rs4786350dbSNPEnsembl.1
Natural variantiVAR_053398280R → Q.Corresponds to variant rs35404373dbSNPEnsembl.1
Natural variantiVAR_068525292V → M in SRTD9; impairs centrosomal localization. 2 PublicationsCorresponds to variant rs431905521dbSNPEnsembl.1
Natural variantiVAR_068526311Y → C in SRTD9; partial to complete loss of basal body localization and increase of cytoplasmic localization. 1 PublicationCorresponds to variant rs387907193dbSNPEnsembl.1
Natural variantiVAR_053399398V → I.Corresponds to variant rs34762152dbSNPEnsembl.1
Natural variantiVAR_053400451A → V.Corresponds to variant rs8060532dbSNPEnsembl.1
Natural variantiVAR_071004459W → S.1 PublicationCorresponds to variant rs778311141dbSNPEnsembl.1
Natural variantiVAR_071005514L → H.1 PublicationCorresponds to variant rs150903791dbSNPEnsembl.1
Natural variantiVAR_068527522G → E in SRTD9. 2 PublicationsCorresponds to variant rs199826737dbSNPEnsembl.1
Natural variantiVAR_062098561S → N.Corresponds to variant rs8050974dbSNPEnsembl.1
Natural variantiVAR_068528576R → Q in SRTD9. 1 PublicationCorresponds to variant rs373111085dbSNPEnsembl.1
Natural variantiVAR_053401621R → Q.Corresponds to variant rs11648609dbSNPEnsembl.1
Natural variantiVAR_068529664E → K in SRTD9; partial to complete loss of basal body localization and increase of cytoplasmic localization. 1 PublicationCorresponds to variant rs387907192dbSNPEnsembl.1
Natural variantiVAR_053402670P → S.Corresponds to variant rs34900355dbSNPEnsembl.1
Natural variantiVAR_071006787D → G.1 PublicationCorresponds to variant rs144938800dbSNPEnsembl.1
Natural variantiVAR_0534031070A → V.1 PublicationCorresponds to variant rs2235638dbSNPEnsembl.1
Natural variantiVAR_0710071353P → R.1 PublicationCorresponds to variant rs146666187dbSNPEnsembl.1
Natural variantiVAR_0710081360C → R in SRTD9; disease phenotype consistent with Mainzer-Saldino syndrome. 1 PublicationCorresponds to variant rs431905520dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0563921 – 806Missing in isoform 2. 1 PublicationAdd BLAST806

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB011162 mRNA. Translation: BAA25516.2. Different initiation.
AE006467 Genomic DNA. Translation: AAK61285.1.
AL080069 mRNA. Translation: CAB45696.1.
AL031705
, AL031719, AL133297, Z97633, Z97652 Genomic DNA. Translation: CAM26342.1.
Z97633
, AL031705, AL031719, AL133297, Z97652 Genomic DNA. Translation: CAM26352.1.
AL031719
, AL031705, AL133297, Z97633, Z97652 Genomic DNA. Translation: CAM26410.1.
Z97652
, AL031705, AL031719, AL133297, Z97633 Genomic DNA. Translation: CAM26430.1.
AL133297
, AL031705, AL031719, Z97633, Z97652 Genomic DNA. Translation: CAM26447.1.
CH471112 Genomic DNA. Translation: EAW85642.1.
CH471112 Genomic DNA. Translation: EAW85644.1.
BC035577 mRNA. Translation: AAH35577.1.
CCDSiCCDS10439.1. [Q96RY7-1]
PIRiT00345.
RefSeqiNP_055529.2. NM_014714.3. [Q96RY7-1]
XP_006721053.1. XM_006720990.3. [Q96RY7-1]
XP_006721054.1. XM_006720991.3. [Q96RY7-1]
XP_016879399.1. XM_017023910.1. [Q96RY7-1]
UniGeneiHs.389438.

Genome annotation databases

EnsembliENST00000361339; ENSP00000354895; ENSG00000187535. [Q96RY7-2]
ENST00000426508; ENSP00000406012; ENSG00000187535. [Q96RY7-1]
GeneIDi9742.
KEGGihsa:9742.
UCSCiuc002cmb.4. human. [Q96RY7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB011162 mRNA. Translation: BAA25516.2. Different initiation.
AE006467 Genomic DNA. Translation: AAK61285.1.
AL080069 mRNA. Translation: CAB45696.1.
AL031705
, AL031719, AL133297, Z97633, Z97652 Genomic DNA. Translation: CAM26342.1.
Z97633
, AL031705, AL031719, AL133297, Z97652 Genomic DNA. Translation: CAM26352.1.
AL031719
, AL031705, AL133297, Z97633, Z97652 Genomic DNA. Translation: CAM26410.1.
Z97652
, AL031705, AL031719, AL133297, Z97633 Genomic DNA. Translation: CAM26430.1.
AL133297
, AL031705, AL031719, Z97633, Z97652 Genomic DNA. Translation: CAM26447.1.
CH471112 Genomic DNA. Translation: EAW85642.1.
CH471112 Genomic DNA. Translation: EAW85644.1.
BC035577 mRNA. Translation: AAH35577.1.
CCDSiCCDS10439.1. [Q96RY7-1]
PIRiT00345.
RefSeqiNP_055529.2. NM_014714.3. [Q96RY7-1]
XP_006721053.1. XM_006720990.3. [Q96RY7-1]
XP_006721054.1. XM_006720991.3. [Q96RY7-1]
XP_016879399.1. XM_017023910.1. [Q96RY7-1]
UniGeneiHs.389438.

3D structure databases

ProteinModelPortaliQ96RY7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115090. 13 interactors.
IntActiQ96RY7. 16 interactors.
MINTiMINT-8247576.
STRINGi9606.ENSP00000406012.

PTM databases

iPTMnetiQ96RY7.
PhosphoSitePlusiQ96RY7.

Polymorphism and mutation databases

BioMutaiIFT140.
DMDMi74761083.

Proteomic databases

EPDiQ96RY7.
MaxQBiQ96RY7.
PaxDbiQ96RY7.
PeptideAtlasiQ96RY7.
PRIDEiQ96RY7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000361339; ENSP00000354895; ENSG00000187535. [Q96RY7-2]
ENST00000426508; ENSP00000406012; ENSG00000187535. [Q96RY7-1]
GeneIDi9742.
KEGGihsa:9742.
UCSCiuc002cmb.4. human. [Q96RY7-1]

Organism-specific databases

CTDi9742.
DisGeNETi9742.
GeneCardsiIFT140.
HGNCiHGNC:29077. IFT140.
HPAiHPA042197.
MalaCardsiIFT140.
MIMi266920. phenotype.
614620. gene.
neXtProtiNX_Q96RY7.
OpenTargetsiENSG00000187535.
Orphaneti474. Jeune syndrome.
140969. Saldino-Mainzer syndrome.
PharmGKBiPA142671665.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3617. Eukaryota.
ENOG410XSS4. LUCA.
GeneTreeiENSGT00390000007515.
HOGENOMiHOG000230867.
HOVERGENiHBG055589.
InParanoidiQ96RY7.
KOiK19672.
OMAiYNNAIRL.
OrthoDBiEOG091G00FU.
PhylomeDBiQ96RY7.
TreeFamiTF105851.

Enzyme and pathway databases

BioCyciZFISH:G66-32004-MONOMER.
ReactomeiR-HSA-5610787. Hedgehog 'off' state.
R-HSA-5620924. Intraflagellar transport.
SignaLinkiQ96RY7.

Miscellaneous databases

ChiTaRSiIFT140. human.
GenomeRNAii9742.
PROiQ96RY7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000187535.
CleanExiHS_IFT140.
ExpressionAtlasiQ96RY7. baseline and differential.
GenevisibleiQ96RY7. HS.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
SMARTiSM00320. WD40. 3 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 4 hits.
PROSITEiPS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiIF140_HUMAN
AccessioniPrimary (citable) accession number: Q96RY7
Secondary accession number(s): A2A2A8
, D3DU75, O60332, Q9UG52
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 22, 2005
Last sequence update: December 1, 2001
Last modified: November 30, 2016
This is version 134 of the entry and version 1 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 16
    Human chromosome 16: 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

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 one 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.