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Q8N9Z9 (ILFT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 77. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Intermediate filament tail domain-containing protein 1
Gene names
Name:IFLTD1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length388 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Sequence similarities

Belongs to the intermediate filament family.

Ontologies

Keywords
   Cellular componentIntermediate filament
   Coding sequence diversityAlternative splicing
Polymorphism
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell proliferation

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: Ensembl

intermediate filament

Inferred from electronic annotation. Source: UniProtKB-KW

nuclear envelope

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionstructural molecule activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8N9Z9-1)

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.
Isoform 2 (identifier: Q8N9Z9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-97: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q8N9Z9-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-63: Missing.
     64-83: GQLTSKATVGSCSRVENSLD → MQQPVRAGDIGVSRVQTHHN
Isoform 4 (identifier: Q8N9Z9-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-9: MLEGSWINR → MKDTQDIQEASKAMQNKVHEQEDKNEKQKQ
     206-245: Missing.
Isoform 5 (identifier: Q8N9Z9-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-9: MLEGSWINR → MKDTQDIQEASKAMQNKVHEQEDKNEKQKQ

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 388388Intermediate filament tail domain-containing protein 1
PRO_0000317247

Natural variations

Alternative sequence1 – 9797Missing in isoform 2.
VSP_030922
Alternative sequence1 – 6363Missing in isoform 3.
VSP_040489
Alternative sequence1 – 99MLEGSWINR → MKDTQDIQEASKAMQNKVHE QEDKNEKQKQ in isoform 4 and isoform 5.
VSP_040490
Alternative sequence64 – 8320GQLTS…ENSLD → MQQPVRAGDIGVSRVQTHHN in isoform 3.
VSP_040491
Alternative sequence206 – 24540Missing in isoform 4.
VSP_040492
Natural variant2641A → T.
Corresponds to variant rs35450203 [ dbSNP | Ensembl ].
VAR_049809
Natural variant2671E → G.
Corresponds to variant rs34326830 [ dbSNP | Ensembl ].
VAR_049810
Natural variant2891T → A.
Corresponds to variant rs34732786 [ dbSNP | Ensembl ].
VAR_049811
Natural variant2901A → T.
Corresponds to variant rs34074522 [ dbSNP | Ensembl ].
VAR_049812
Natural variant3661T → S. Ref.1 Ref.3 Ref.4
Corresponds to variant rs1479500 [ dbSNP | Ensembl ].
VAR_049813

Experimental info

Sequence conflict101R → K in BAC04132. Ref.1
Sequence conflict3811K → E in BAG59389. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 2.
Checksum: F5934FA7DA8E2170

FASTA38843,408
        10         20         30         40         50         60 
MLEGSWINRR EDKLGVYSLV HFSPKMLGSV ATTLPLSSSN SSGMPLGYYL SSPQISRVTI 

        70         80         90        100        110        120 
STTGQLTSKA TVGSCSRVEN SLDASPFSVP KKQDESPMIG DGEDYFLSLF GDSKKLTAHS 

       130        140        150        160        170        180 
NYTQKTLKYF SMILEEVGQF TSSSLGDVEI AEVNVKGLFV KLINSSLDKE MAIGDHILQQ 

       190        200        210        220        230        240 
NVNGQTISLY RFLPNIVMQA NSTVTVWAAA SEAKHQPPSD FLWKEQDKFR ASPDCITILC 

       250        260        270        280        290        300 
KPNGQAIAWY TPIHWKQAWE KLDADVEFNR CSVVSPTFRK RVFQWTASTA TITKEKQDQP 

       310        320        330        340        350        360 
KKDISNYQVE QAQVLLKREK EIPPTVFPNR SPWCQNPYVS AHPYCPLIEP HNTSTAGGRL 

       370        380 
DRQPRTRSTR PNRASGSKKK KTSESQKQ 

« Hide

Isoform 2 [UniParc].

Checksum: F62420E9E63B546B
Show »

FASTA29133,043
Isoform 3 [UniParc].

Checksum: 72277BF2C649AE62
Show »

FASTA32536,755
Isoform 4 [UniParc].

Checksum: DA61CC73D814A55B
Show »

FASTA36941,395
Isoform 5 [UniParc].

Checksum: 39B923E5391AC919
Show »

FASTA40945,891

References

[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3; 4 AND 5), VARIANT SER-366.
Tissue: Testis and Tongue.
[2]"The finished DNA sequence of human chromosome 12."
Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. expand/collapse author list , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT SER-366.
[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] (ISOFORM 2), VARIANT SER-366.
Tissue: Brain.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK093323 mRNA. Translation: BAC04132.1.
AK296816 mRNA. Translation: BAG59389.1.
AK302292 mRNA. Translation: BAG63632.1.
AK310411 mRNA. No translation available.
AC022367 Genomic DNA. No translation available.
CH471094 Genomic DNA. Translation: EAW96516.1.
BC037957 mRNA. Translation: AAH37957.1.
CCDSCCDS44847.1. [Q8N9Z9-3]
CCDS44848.1. [Q8N9Z9-4]
CCDS44849.1. [Q8N9Z9-5]
CCDS58218.1. [Q8N9Z9-2]
CCDS8704.1. [Q8N9Z9-1]
RefSeqNP_001139199.1. NM_001145727.2. [Q8N9Z9-3]
NP_001139200.1. NM_001145728.2. [Q8N9Z9-5]
NP_001139201.1. NM_001145729.1. [Q8N9Z9-4]
NP_001243195.1. NM_001256266.1. [Q8N9Z9-2]
NP_689803.2. NM_152590.3. [Q8N9Z9-1]
UniGeneHs.44647.

3D structure databases

ProteinModelPortalQ8N9Z9.
SMRQ8N9Z9. Positions 143-251.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127760. 1 interaction.
STRING9606.ENSP00000407353.

PTM databases

PhosphoSiteQ8N9Z9.

Polymorphism databases

DMDM296434538.

Proteomic databases

PaxDbQ8N9Z9.
PRIDEQ8N9Z9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000282881; ENSP00000282881; ENSG00000152936. [Q8N9Z9-1]
ENST00000413632; ENSP00000393150; ENSG00000152936. [Q8N9Z9-4]
ENST00000445693; ENSP00000407043; ENSG00000152936. [Q8N9Z9-3]
ENST00000458174; ENSP00000407353; ENSG00000152936. [Q8N9Z9-5]
ENST00000539744; ENSP00000443132; ENSG00000152936. [Q8N9Z9-2]
GeneID160492.
KEGGhsa:160492.
UCSCuc001rgs.2. human. [Q8N9Z9-1]
uc009zjc.2. human. [Q8N9Z9-4]
uc010sji.1. human. [Q8N9Z9-5]
uc010sjj.3. human. [Q8N9Z9-3]

Organism-specific databases

CTD160492.
GeneCardsGC12M025564.
HGNCHGNC:26683. IFLTD1.
HPAHPA045911.
neXtProtNX_Q8N9Z9.
PharmGKBPA162391895.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG278780.
HOGENOMHOG000113053.
HOVERGENHBG071391.
InParanoidQ8N9Z9.
OMAFLPNIVM.
PhylomeDBQ8N9Z9.
TreeFamTF338357.

Gene expression databases

ArrayExpressQ8N9Z9.
BgeeQ8N9Z9.
CleanExHS_IFLTD1.
GenevestigatorQ8N9Z9.

Family and domain databases

Gene3D2.60.40.1260. 1 hit.
InterProIPR001664. IF.
IPR001322. Lamin_tail_dom.
[Graphical view]
PANTHERPTHR23239. PTHR23239. 1 hit.
PfamPF00932. LTD. 1 hit.
[Graphical view]
SUPFAMSSF74853. SSF74853. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi160492.
NextBio87972.
PROQ8N9Z9.

Entry information

Entry nameILFT1_HUMAN
AccessionPrimary (citable) accession number: Q8N9Z9
Secondary accession number(s): B4DL27, B4DY70, Q8IY38
Entry history
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 77 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

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 12

Human chromosome 12: entries, gene names and cross-references to MIM