Kromosom 1

Kromosom 1
Kromosom 1
	Pasangan kromosom 1 selepas penjaluran G.
	Pasangan kromosome 1 ; dalam kariogram manusia lelaki.
Ciri-ciri
Panjang (bp)	248,387,328 bp; (CHM13)
Bilangan gen	1,961 (CCDS)
Jenis	Autosom
Kedudukan sentromer	Metasentrik; (123.4 Mbp)
Senarai gen lengkap
CCDS	Senarai gen
HGNC	Senarai gen
UniProt	Senarai gen
NCBI	Gene list
Pemidang peta luaran
Ensembl	Kromosom 1
Entrez	Kromosom 1
NCBI	Kromosom 1
UCSC	Kromosom 1
Jujukan DNA penuh
RefSeq	NC_000001 (FASTA)
GenBank	CM000663 (FASTA)

Kromosom 1 ialah sebutan untuk kromosom manusia terbesar. Manusia mempunyai dua salinan kromosom 1 seperti semua autosom, yakni kromosom bukan jantina. Kromosom 1 merangkumi kira-kira 249 juta pasangan bes nukleotida, unit asas maklumat DNA.^[4] Ia mewakili kira-kira 8% daripada jumlah DNA dalam sel manusia.^[5]

Ia merupakan kromosom terakhir yang berjaya dijujuki lengkap, dengan tempoh penjujukan dua dekad selepas permulaan Projek Genom Manusia.

Gen

Bilangan gen

Berikut adalah beberapa anggaran kiraan gen kromosom manusia 1. Oleh kerana penyelidik menggunakan pendekatan yang berbeza bagi anotasi genom, ramalan mereka tentang bilangan gen pada setiap kromosom berbeza-beza. Dalam pelbagai projek, projek jujukan pengekodan konsensus kolaboratif (CCDS) mengambil strategi yang sangat konservatif. Dengan itu, ramalan nombor gen CCDS mewakili had bawah jumlah bilangan gen pengekodan protein manusia.^[6]

Dianggarkan oleh	Gen pengekod protein	Gen RNA bukan pengekod	Pseudogen	Sumber	Tarikh keluaran
CCDS	1,961	—	—	^[1]	08-09-2016
HGNC	1,993	707	1,113	^[7]	2017-05-12
Ensembl	2,044	1,924	1,223	^[8]	29-03-2017
UniProt	2,064	—	—	^[9]	28-02-2018
NCBI	2,093	1,790	1,426	^[10] ^[11] ^[12]	19-05-2017

Senarai gen

Berikut ialah senarai separa gen pada kromosom 1 manusia. Untuk senarai lengkap, lihat pautan dalam kotak info di sebelah kanan.

C1orf112: pengekodan protein Kromosom 1 bingkai bacaan terbuka 112
C1orf127: pengekodan protein Kromosom 1 bingkai bacaan terbuka 127
C1orf27: pengekodan protein Kromosom 1 bingkai bacaan terbuka 27
C1orf38: pengekodan protein Kromosom 1 bingkai bacaan terbuka 38
CCDC181: pengekodan protein berkandungan domain gegelung bergelung 181
DENN1B: dihipotesiskan berkaitan dengan asma
FHAD1: pengekodan protein domain berkaitan forkhead 1
LOC100132287: protein tidak berciri
LRRIQ3: pengekodan protein ulangan kaya leusina dan motif IQ 3
Ahli keluarga Shisa 4: pengekodan protein ahli keluarga Shisa 4
TINAGL1: pengekodan protein nefritis tubulointerstitial seperti antigen

Penyakit dan gangguan

Terdapat 890 penyakit yang diketahui berkaitan dengan kromosom ini.^{[perlu rujukan]} Beberapa penyakit ini termasuk kehilangan pendengaran, penyakit Alzheimer, glaukoma dan kanser payudara. Penyusunan semula dan mutasi kromosom 1 adalah lazim dalam kanser dan banyak penyakit lain. Corak variasi jujukan mendedahkan isyarat pemilihan baru-baru ini dalam gen tertentu yang mungkin menyumbang kepada kecergasan manusia, dan juga di kawasan yang tiada fungsi yang jelas.

Monosomi lengkap (hanya mempunyai satu salinan keseluruhan kromosom) selalu membawa maut sebelum kelahiran.^[13] Trisomi lengkap (mempunyai tiga salinan keseluruhan kromosom) boleh membawa maut dalam beberapa hari selepas persenyawaan.^[13] Sesetengah pemadaman dan duplikasi separa separa menghasilkan kecacatan kelahiran.

Jalur sitogenetik

G-banding ideograms of human chromosome 1

Ideogram penjaluran G kromosom 1 manusia dalam resolusi 850 bphs. Panjang jalur adalah berkadaran dengan panjang pasangan bes. Jenis ideogram ini biasanya digunakan dalam carian genom (cth. Ensembl, UCSC Genome Browser).

Corak penjaluran G kromosom 1 manusia dalam tiga resolusi berbeza (400,^[14] 550^[15] dan 850^[3]). Panjang jalur dalam rajah adalah berdasarkan ideogram ISCN (2013).^[16] Jenis ideogram ini mewakili panjang jalur relatif sebenar yang diperhatikan di bawah mikroskop ketika tempoh berbeza dalam mitosis.^[17]

Penjaluran G kromosom 1 manusia dalam resolusi 850 bphs^[3]
Kr.	Lengan^[18]	Jalur^[19]	Permulaan ISCN^[20]	Pengakhiran ISCN^[20]	Permulaan pasangan bes	Pengakhiran pasangan bes	Stain^[21]	Ketumpatan
1	p	36.33	0	100	7000100000000000000♠1	7006230000000000000♠2,300,000	gneg
1	p	36.32	100	244	7006230000100000000♠2,300,001	7006530000000000000♠5,300,000	gpos	25
1	p	36.31	244	344	7006530000100000000♠5,300,001	7006710000000000000♠7,100,000	gneg
1	p	36.23	344	459	7006710000100000000♠7,100,001	7006910000000000000♠9,100,000	gpos	25
1	p	36.22	459	660	7006910000100000000♠9,100,001	7007125000000000000♠12,500,000	gneg
1	p	36.21	660	861	7007125000010000000♠12,500,001	7007159000000000000♠15,900,000	gpos	50
1	p	36.13	861	1206	7007159000010000000♠15,900,001	7007201000000000000♠20,100,000	gneg
1	p	36.12	1206	1321	7007201000010000000♠20,100,001	7007236000000000000♠23,600,000	gpos	25
1	p	36.11	1321	1521	7007236000010000000♠23,600,001	7007276000000000000♠27,600,000	gneg
1	p	35.3	1521	1651	7007276000010000000♠27,600,001	7007299000000000000♠29,900,000	gpos	25
1	p	35.2	1651	1780	7007299000010000000♠29,900,001	7007323000000000000♠32,300,000	gneg
1	p	35.1	1780	1895	7007323000010000000♠32,300,001	7007343000000000000♠34,300,000	gpos	25
1	p	34.3	1895	2210	7007343000010000000♠34,300,001	7007396000000000000♠39,600,000	gneg
1	p	34.2	2210	2411	7007396000010000000♠39,600,001	7007437000000000000♠43,700,000	gpos	25
1	p	34.1	2411	2770	7007437000010000000♠43,700,001	7007463000000000000♠46,300,000	gneg
1	p	33	2770	2986	7007463000010000000♠46,300,001	7007502000000000000♠50,200,000	gpos	75
1	p	32.3	2986	3273	7007502000010000000♠50,200,001	7007556000000000000♠55,600,000	gneg
1	p	32.2	3273	3416	7007556000010000000♠55,600,001	7007585000000000000♠58,500,000	gpos	50
1	p	32.1	3416	3732	7007585000010000000♠58,500,001	7007608000000000000♠60,800,000	gneg
1	p	31.3	3732	3976	7007608000010000000♠60,800,001	7007685000000000000♠68,500,000	gpos	50
1	p	31.2	3976	4206	7007685000010000000♠68,500,001	7007693000000000000♠69,300,000	gneg
1	p	31.1	4206	4852	7007693000010000000♠69,300,001	7007844000000000000♠84,400,000	gpos	100
1	p	22.3	4852	5210	7007844000010000000♠84,400,001	7007879000000000000♠87,900,000	gneg
1	p	22.2	5210	5440	7007879000010000000♠87,900,001	7007915000000000000♠91,500,000	gpos	75
1	p	22.1	5440	5741	7007915000010000000♠91,500,001	7007943000000000000♠94,300,000	gneg
1	p	21.3	5741	5957	7007943000010000000♠94,300,001	7007993000000000000♠99,300,000	gpos	75
1	p	21.2	5957	6029	7007993000010000000♠99,300,001	7008101800000000000♠101,800,000	gneg
1	p	21.1	6029	6244	7008101800001000000♠101,800,001	7008106700000000000♠106,700,000	gpos	100
1	p	13.3	6244	6459	7008106700001000000♠106,700,001	7008111200000000000♠111,200,000	gneg
1	p	13.2	6459	6660	7008111200001000000♠111,200,001	7008115500000000000♠115,500,000	gpos	50
1	p	13.1	6660	6861	7008115500001000000♠115,500,001	7008117200000000000♠117,200,000	gneg
1	p	12	6861	7048	7008117200001000000♠117,200,001	7008120400000000000♠120,400,000	gpos	50
1	p	11.2	7048	7119	7008120400001000000♠120,400,001	7008121700000000000♠121,700,000	gneg
1	p	11.1	7119	7335	7008121700001000000♠121,700,001	7008123400000000000♠123,400,000	acen
1	q	11	7335	7579	7008123400001000000♠123,400,001	7008125100000000000♠125,100,000	acen
1	q	12	7579	8483	7008125100001000000♠125,100,001	7008143200000000000♠143,200,000	gvar
1	q	21.1	8483	8756	7008143200001000000♠143,200,001	7008147500000000000♠147,500,000	gneg
1	q	21.2	8756	8957	7008147500001000000♠147,500,001	7008150600000000000♠150,600,000	gpos	50
1	q	21.3	8957	9244	7008150600001000000♠150,600,001	7008155100000000000♠155,100,000	gneg
1	q	22	9244	9459	7008155100001000000♠155,100,001	7008156600000000000♠156,600,000	gpos	50
1	q	23.1	9459	9832	7008156600001000000♠156,600,001	7008159100000000000♠159,100,000	gneg
1	q	23.2	9832	10048	7008159100001000000♠159,100,001	7008160500000000000♠160,500,000	gpos	50
1	q	23.3	10048	10349	7008160500001000000♠160,500,001	7008165500000000000♠165,500,000	gneg
1	q	24.1	10349	10507	7008165500001000000♠165,500,001	7008167200000000000♠167,200,000	gpos	50
1	q	24.2	10507	10679	7008167200001000000♠167,200,001	7008170900000000000♠170,900,000	gneg
1	q	24.3	10679	10894	7008170900001000000♠170,900,001	7008173000000000000♠173,000,000	gpos	75
1	q	25.1	10894	11009	7008173000001000000♠173,000,001	7008176100000000000♠176,100,000	gneg
1	q	25.2	11009	11196	7008176100001000000♠176,100,001	7008180300000000000♠180,300,000	gpos	50
1	q	25.3	11196	11598	7008180300001000000♠180,300,001	7008185800000000000♠185,800,000	gneg
1	q	31.1	11598	11827	7008185800001000000♠185,800,001	7008190800000000000♠190,800,000	gpos	100
1	q	31.2	11827	11942	7008190800001000000♠190,800,001	7008193800000000000♠193,800,000	gneg
1	q	31.3	11942	12172	7008193800001000000♠193,800,001	7008198700000000000♠198,700,000	gpos	100
1	q	32.1	12172	12617	7008198700001000000♠198,700,001	7008207100000000000♠207,100,000	gneg
1	q	32.2	12617	12803	7008207100001000000♠207,100,001	7008211300000000000♠211,300,000	gpos	25
1	q	32.3	12803	13033	7008211300001000000♠211,300,001	7008214400000000000♠214,400,000	gneg
1	q	41	13033	13320	7008214400001000000♠214,400,001	7008223900000000000♠223,900,000	gpos	100
1	q	42.11	13320	13406	7008223900001000000♠223,900,001	7008224400000000000♠224,400,000	gneg
1	q	42.12	13406	13607	7008224400001000000♠224,400,001	7008226800000000000♠226,800,000	gpos	25
1	q	42.13	13607	13966	7008226800001000000♠226,800,001	7008230500000000000♠230,500,000	gneg
1	q	42.2	13966	14153	7008230500001000000♠230,500,001	7008234600000000000♠234,600,000	gpos	50
1	q	42.3	14153	14397	7008234600001000000♠234,600,001	7008236400000000000♠236,400,000	gneg
1	q	43	14397	14756	7008236400001000000♠236,400,001	7008243500000000000♠243,500,000	gpos	75
1	q	44	14756	15100	7008243500001000000♠243,500,001	7008248956422000000♠248,956,422	gneg

Rujukan

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[5]

[1]

[2]

[3]

[6]

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[8]

[9]

[10]

[11]

[12]

[13]

[14]

[15]

[16]

[17]

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[19]

[20]

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