Reviewed, UniProtKB/Swiss-Prot Q16352 (AINX_HUMAN)

Names and origin

Protein names

Recommended name:
    Alpha-internexin
      Short name=Alpha-Inx
Alternative name(s):
    66 kDa neurofilament protein
      Short name=Neurofilament-66
      Short name=NF-66
    Neurofilament 5

Gene names

Name:	INA
Synonyms:	NEF5

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	499 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Class-IV neuronal intermediate filament that is able to self-assemble. It is involved in the morphogenesis of neurons. It may form an independent structural network without the involvement of other neurofilaments or it may cooperate with NF-L to form the filamentous backbone to which NF-M and NF-H attach to form the cross-bridges.
Tissue specificity	Found predominantly in adult CNS.
Developmental stage	Expressed in brain as early as the 16th week of gestation, and increased rapidly and reached a steady state level by the 18th week of gestation.
Post-translational modification	O-glycosylated By similarity. Phosphorylated upon DNA damage, probably by ATM or ATR. Ref.6
Sequence similarities	Belongs to the intermediate filament family.

Ontologies

Keywords
Biological process	Differentiation Neurogenesis
Cellular component	Intermediate filament
Coding sequence diversity	Polymorphism
Domain	Coiled coil
Molecular function	Developmental protein
PTM	Acetylation Glycoprotein Phosphoprotein
Technical term	Complete proteome Direct protein sequencing
Gene Ontology (GO)
Biological process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW nervous system development Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	neurofilament Ref.1 Traceable author statement. Source: ProtInc
Molecular function	structural constituent of cytoskeleton Ref.1 Traceable author statement. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 499	499	Alpha-internexin		PRO_0000063783
Regions
	Region	1 – 87	87	Head
	Region	88 – 408	321	Rod
	Region	88 – 129	42	Coil 1A
	Region	130 – 142	13	Linker 1
	Region	143 – 238	96	Coil 1B
	Region	239 – 262	24	Linker 2
	Region	263 – 408	146	Coil 2
	Region	409 – 499	91	Tail
	Compositional bias	449 – 454	6	Poly-Glu
Amino acid modifications
	Modified residue	72	1	Phosphoserine By similarity
	Modified residue	290	1	N6-acetyllysine Ref.7
	Modified residue	335	1	Phosphoserine By similarity
	Modified residue	496	1	Phosphoserine Ref.6
Natural variations
	Natural variant	92	1	T → S: dbSNP rs1063455. Ref.1		VAR_049808
	Natural variant	110	1	E → Q in a breast cancer sample; somatic mutation. Ref.8		VAR_036369
	Natural variant	149	1	D → H: dbSNP rs1063456.		VAR_033497
Experimental info
	Sequence conflict	37 – 41	5	GFRSQ → ASVE in AAB34482. Ref.1
	Sequence conflict	67	1	R → A in AAB34482. Ref.1
	Sequence conflict	128 – 132	5	ALRQR → RCDT in AAB34482. Ref.1
	Sequence conflict	141	1	E → Q in AAB34482. Ref.1
	Sequence conflict	147 – 152	6	LRDLRA → PRHLP in AAB34482. Ref.1
	Sequence conflict	191 – 198	8	GAERALKA → RRARLKR in AAB34482. Ref.1
	Sequence conflict	244	1	A → R in AAB34482. Ref.1
	Sequence conflict	263	1	S → A in AAB34482. Ref.1
	Sequence conflict	301	1	S → T in AAB34482. Ref.1
	Sequence conflict	310 – 311	2	EE → DQ in AAB34482. Ref.1
	Sequence conflict	318	1	Missing in AAB34482. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q16352-1 [UniParc]. Last modified January 23, 2002. Version 2. Checksum: 4C972764E9E68D3E	FASTA	499	55,391
	10 20 30 40 50 60 MSFGSEHYLC SSSSYRKVFG DGSRLSARLS GAGGAGGFRS QSLSRSNVAS SAACSSASSL 70 80 90 100 110 120 GLGLAYRRPP ASDGLDLSQA AARTNEYKII RTNEKEQLQG LNDRFAVFIE KVHQLETQNR 130 140 150 160 170 180 ALEAELAALR QRHAEPSRVG ELFQRELRDL RAQLEEASSA RSQALLERDG LAEEVQRLRA 190 200 210 220 230 240 RCEEESRGRE GAERALKAQQ RDVDGATLAR LDLEKKVESL LDELAFVRQV HDEEVAELLA 250 260 270 280 290 300 TLQASSQAAA EVDVTVAKPD LTSALREIRA QYESLAAKNL QSAEEWYKSK FANLNEQAAR 310 320 330 340 350 360 STEAIRASRE EIHEYRRQLQ ARTIEIEGLR GANESLERQI LELEERHSAE VAGYQDSIGQ 370 380 390 400 410 420 LENDLRNTKS EMARHLREYQ DLLNVKMALD IEIAAYRKLL EGEETRFSTS GLSISGLNPL 430 440 450 460 470 480 PNPSYLLPPR ILSATTSKVS STGLSLKKEE EEEEASKVAS KKTSQIGESF EEILEETVIS 490 TKKTEKSNIE ETTISSQKI

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning and developmental expression of human 66 kd neurofilament protein." Chan S.-O., Chiu F.-C. Brain Res. Mol. Brain Res. 29:177-184(1995) [PubMed: 7769995] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT SER-92. Tissue: Fetal brain.
[2]	"The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J. Nature 429:375-381(2004) [PubMed: 15164054] [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 (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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]. Tissue: Brain.
[5]	Lubec G., Afjehi-Sadat L., Chen W.-Q., Sun Y. Submitted (DEC-2008) to UniProtKB Cited for: PROTEIN SEQUENCE OF 46-83; 105-111; 121-130; 139-145; 216-228; 279-288; 323-330; 339-367; 378-397 AND 407-430, MASS SPECTROMETRY. Tissue: Brain, Cajal-Retzius cell and Fetal brain cortex.
[6]	"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage." Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J. Science 316:1160-1166(2007) [PubMed: 17525332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-496, MASS SPECTROMETRY.
[7]	"Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed: 19608861] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-290, MASS SPECTROMETRY.
[8]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] GLN-110.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	S78296 mRNA. Translation: AAB34482.1. AL591408 Genomic DNA. Translation: CAI16744.1. CH471066 Genomic DNA. Translation: EAW49653.1. BC006359 mRNA. Translation: AAH06359.1.
IPI	IPI00001453.
PIR	I52658.
RefSeq	NP_116116.1.
UniGene	Hs.500916
3D structure databases
SMR	Q16352. Positions 92-129, 325-402.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q16352. 2 interactions.
STRING	Q16352.
PTM databases
PhosphoSite	Q16352.
Proteomic databases
PeptideAtlas	Q16352.
PRIDE	Q16352.
Genome annotation databases
Ensembl	ENST00000369849; ENSP00000358865; ENSG00000148798; Homo sapiens. [Genome view]
GeneID	9118.
KEGG	hsa:9118.
UCSC	uc001kws.1. human.
Organism-specific databases
CTD	9118.
GeneCards	GC10P105026.
H-InvDB	HIX0009173.
HGNC	HGNC:6057. INA.
HPA	CAB002059. HPA008057.
MIM	605338. gene.
PharmGKB	PA28985.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG10014.
HOGENOM	HBG715391.
HOVERGEN	Q16352.
InParanoid	Q16352.
OMA	CEEESRG.
OrthoDB	EOG9J9QJ2.
PhylomeDB	Q16352.
Gene expression databases
ArrayExpress	Q16352.
Bgee	Q16352.
CleanEx	HS_INA.
Genevestigator	Q16352.
GermOnline	ENSG00000148798. Homo sapiens.
Family and domain databases
InterPro	IPR016044. F. IPR001664. IF. IPR006821. Intermed_filament_DNA_bd. IPR018039. Intermediate_filament_CS. [Graphical view]
PANTHER	PTHR23239. IF. 1 hit.
Pfam	PF00038. Filament. 1 hit. PF04732. Filament_head. 1 hit. [Graphical view]
PROSITE	PS00226. IF. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	34171.
SOURCE	Search...

Entry information

Entry name

AINX_HUMAN

Accession

Primary (citable) accession number: Q16352
Secondary accession number(s): B1AQK0, Q9BRC5

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	January 23, 2002
Last modified:	February 9, 2010
This is version 96 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.