Q8N9Z9 (ILFT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Intermediate filament tail domain-containing protein 1

Gene names

Name:

IFLTD1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	388 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Sequence similarities

Belongs to the intermediate filament family.

Ontologies

Keywords
Cellular component	Intermediate filament
Coding sequence diversity	Alternative splicing Polymorphism
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	intermediate filament Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	structural 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 388	388	Intermediate filament tail domain-containing protein 1		PRO_0000317247
Natural variations
	Alternative sequence	1 – 97	97	Missing in isoform 2.		VSP_030922
	Alternative sequence	1 – 63	63	Missing in isoform 3.		VSP_040489
	Alternative sequence	1 – 9	9	MLEGSWINR → MKDTQDIQEASKAMQNKVHE QEDKNEKQKQ in isoform 4 and isoform 5.		VSP_040490
	Alternative sequence	64 – 83	20	GQLTS…ENSLD → MQQPVRAGDIGVSRVQTHHN in isoform 3.		VSP_040491
	Alternative sequence	206 – 245	40	Missing in isoform 4.		VSP_040492
	Natural variant	264	1	A → T. Corresponds to variant rs35450203 [ dbSNP | Ensembl ].		VAR_049809
	Natural variant	267	1	E → G. Corresponds to variant rs34326830 [ dbSNP | Ensembl ].		VAR_049810
	Natural variant	289	1	T → A. Corresponds to variant rs34732786 [ dbSNP | Ensembl ].		VAR_049811
	Natural variant	290	1	A → T. Corresponds to variant rs34074522 [ dbSNP | Ensembl ].		VAR_049812
	Natural variant	366	1	T → S. Ref.1 Ref.3 Ref.4 Corresponds to variant rs1479500 [ dbSNP | Ensembl ].		VAR_049813
Experimental info
	Sequence conflict	10	1	R → K in BAC04132. Ref.1
	Sequence conflict	381	1	K → E in BAG59389. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 18, 2010. Version 2. Checksum: F5934FA7DA8E2170	FASTA	388	43,408
	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
	Isoform 2 [UniParc]. Checksum: F62420E9E63B546B	FASTA	291	33,043
	10 20 30 40 50 60 MIGDGEDYFL SLFGDSKKLT AHSNYTQKTL KYFSMILEEV GQFTSSSLGD VEIAEVNVKG 70 80 90 100 110 120 LFVKLINSSL DKEMAIGDHI LQQNVNGQTI SLYRFLPNIV MQANSTVTVW AAASEAKHQP 130 140 150 160 170 180 PSDFLWKEQD KFRASPDCIT ILCKPNGQAI AWYTPIHWKQ AWEKLDADVE FNRCSVVSPT 190 200 210 220 230 240 FRKRVFQWTA STATITKEKQ DQPKKDISNY QVEQAQVLLK REKEIPPTVF PNRSPWCQNP 250 260 270 280 290 YVSAHPYCPL IEPHNTSTAG GRLDRQPRTR STRPNRASGS KKKKTSESQK Q
	Isoform 3 [UniParc]. Checksum: 72277BF2C649AE62	FASTA	325	36,755
	10 20 30 40 50 60 MQQPVRAGDI GVSRVQTHHN ASPFSVPKKQ DESPMIGDGE DYFLSLFGDS KKLTAHSNYT 70 80 90 100 110 120 QKTLKYFSMI LEEVGQFTSS SLGDVEIAEV NVKGLFVKLI NSSLDKEMAI GDHILQQNVN 130 140 150 160 170 180 GQTISLYRFL PNIVMQANST VTVWAAASEA KHQPPSDFLW KEQDKFRASP DCITILCKPN 190 200 210 220 230 240 GQAIAWYTPI HWKQAWEKLD ADVEFNRCSV VSPTFRKRVF QWTASTATIT KEKQDQPKKD 250 260 270 280 290 300 ISNYQVEQAQ VLLKREKEIP PTVFPNRSPW CQNPYVSAHP YCPLIEPHNT STAGGRLDRQ 310 320 PRTRSTRPNR ASGSKKKKTS ESQKQ
	Isoform 4 [UniParc]. Checksum: DA61CC73D814A55B	FASTA	369	41,395
	10 20 30 40 50 60 MKDTQDIQEA SKAMQNKVHE QEDKNEKQKQ REDKLGVYSL VHFSPKMLGS VATTLPLSSS 70 80 90 100 110 120 NSSGMPLGYY LSSPQISRVT ISTTGQLTSK ATVGSCSRVE NSLDASPFSV PKKQDESPMI 130 140 150 160 170 180 GDGEDYFLSL FGDSKKLTAH SNYTQKTLKY FSMILEEVGQ FTSSSLGDVE IAEVNVKGLF 190 200 210 220 230 240 VKLINSSLDK EMAIGDHILQ QNVNGQTISL YRFLPNIVMQ ANSTVTAIAW YTPIHWKQAW 250 260 270 280 290 300 EKLDADVEFN RCSVVSPTFR KRVFQWTAST ATITKEKQDQ PKKDISNYQV EQAQVLLKRE 310 320 330 340 350 360 KEIPPTVFPN RSPWCQNPYV SAHPYCPLIE PHNTSTAGGR LDRQPRTRST RPNRASGSKK KKTSESQKQ
	Isoform 5 [UniParc]. Checksum: 39B923E5391AC919	FASTA	409	45,891
	10 20 30 40 50 60 MKDTQDIQEA SKAMQNKVHE QEDKNEKQKQ REDKLGVYSL VHFSPKMLGS VATTLPLSSS 70 80 90 100 110 120 NSSGMPLGYY LSSPQISRVT ISTTGQLTSK ATVGSCSRVE NSLDASPFSV PKKQDESPMI 130 140 150 160 170 180 GDGEDYFLSL FGDSKKLTAH SNYTQKTLKY FSMILEEVGQ FTSSSLGDVE IAEVNVKGLF 190 200 210 220 230 240 VKLINSSLDK EMAIGDHILQ QNVNGQTISL YRFLPNIVMQ ANSTVTVWAA ASEAKHQPPS 250 260 270 280 290 300 DFLWKEQDKF RASPDCITIL CKPNGQAIAW YTPIHWKQAW EKLDADVEFN RCSVVSPTFR 310 320 330 340 350 360 KRVFQWTAST ATITKEKQDQ PKKDISNYQV EQAQVLLKRE KEIPPTVFPN RSPWCQNPYV 370 380 390 400 SAHPYCPLIE PHNTSTAGGR LDRQPRTRST RPNRASGSKK KKTSESQKQ

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. , 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: 14702039] [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. , 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: 16541075] [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. , 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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT SER-366. Tissue: Brain.
+	Additional computationally mapped references.

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.
IPI	IPI00167858. IPI00792266. IPI00923576. IPI00923584. IPI00973558.
RefSeq	NP_001139199.1. NM_001145727.1. NP_001139200.1. NM_001145728.1. NP_001139201.1. NM_001145729.1. NP_689803.2. NM_152590.2.
UniGene	Hs.44647.
3D structure databases
HSSP	HSSP built from PDB template 1IFR based on UniProtKB P02545.
ProteinModelPortal	Q8N9Z9.
SMR	Q8N9Z9. Positions 139-254.
ModBase	Search...
Protein-protein interaction databases
STRING	Q8N9Z9.
Polymorphism databases
DMDM	296434538.
Proteomic databases
PRIDE	Q8N9Z9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000282881; ENSP00000282881; ENSG00000152936. ENST00000445693; ENSP00000407043; ENSG00000152936. ENST00000458174; ENSP00000407353; ENSG00000152936.
GeneID	160492.
KEGG	hsa:160492.
UCSC	uc001rgs.1. human. uc001rgt.1. human.
Organism-specific databases
CTD	160492.
GeneCards	GC12M025564.
HGNC	HGNC:26683. IFLTD1.
HPA	HPA045911.
neXtProt	NX_Q8N9Z9.
PharmGKB	PA162391895.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG13113.
GeneTree	ENSGT00450000040420.
HOVERGEN	HBG071391.
InParanoid	Q8N9Z9.
OMA	VVSPTFR.
PhylomeDB	Q8N9Z9.
Gene expression databases
ArrayExpress	Q8N9Z9.
Bgee	Q8N9Z9.
CleanEx	HS_IFLTD1.
Genevestigator	Q8N9Z9.
Family and domain databases
InterPro	IPR001664. IF. IPR001322. IF_tail_C. [Graphical view]
PANTHER	PTHR23239. IF. 1 hit.
Pfam	PF00932. IF_tail. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	87972.

Entry information

Entry name

ILFT1_HUMAN

Accession

Primary (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:	January 25, 2012
This is version 56 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.